Down Syndrome
SNOMED CT concept for Down syndrome
In SNOMED CT, Down syndrome maps to 41040004 | Down syndrome (disorder) |, with 70156005 for complete trisomy 21 and distinct concepts for translocation and mosaic forms. It corresponds to ICD-11 LD40.0 (Trisomy 21). SNOMED CT drives EHR problem lists and interoperability; ICD-11 serves classification — reconcile both.
A clean terminology crosswalk is what lets a Down syndrome diagnosis travel safely from your clinic note to the registry, the lab and the care plan.
In short
In SNOMED CT, Down syndrome maps to the fully specified concept 41040004 | Down syndrome (disorder) |, the parent concept under which the trisomy-21 variants sit. The most common form, complete trisomy 21, is represented by 70156005 | Complete trisomy 21 syndrome (disorder) |, with separate concepts for translocation and mosaic forms. For classification and morbidity coding, this corresponds to ICD-11 LD40.0 — Trisomy 21 (and to ICD-10 Q90.- ).Mapping in practice
- 41040004 — Down syndrome (disorder) — the principal clinical concept; use as the problem-list anchor.
- 70156005 — Complete trisomy 21 syndrome — the karyotype-confirmed full trisomy.
- Translocation and mosaic trisomy 21 carry their own distinct SNOMED CT concepts; record the cytogenetically confirmed subtype where known.
- SNOMED CT (the disorder concept) and ICD-11 LD40.0 are complementary, not interchangeable — SNOMED CT drives EHR problem lists, clinical decision support and interoperability, while ICD-11 serves statistical and reimbursement classification. Always reconcile both in the record.
A practical note for the early-intervention pathway: the terminology code documents what the condition is; it does not capture functioning. Two children sharing 41040004 may differ widely across communication, motor, cognition and self-care — which is where a structured developmental profile, not the diagnostic code, guides therapy planning.
The Pinnacle way
A clinical AbilityScore® and any diagnosis are formed only at a Pinnacle Blooms Network centre, under qualified clinician care — never from a code, a form or an app. For a child with confirmed trisomy 21, our teams translate the diagnosis into a functioning-led plan spanning speech therapy and early developmental support, coordinated across [our centres](/). Across 70+ centres, 700+ therapists and 25 million+ therapy sessions, the terminology code is simply the entry point — the developmental profile drives the work.Trusted sources
WHO ICD-11 (LD40.0, Trisomy 21) for statistical classification; AAP / HealthyChildren.org for clinical care of children with Down syndrome; CDC developmental-milestone guidance for early monitoring. SNOMED CT concept identifiers should be verified against the current national edition release.Next step — Confirm the diagnostic subtype cytogenetically, then refer for a functioning-led developmental assessment to anchor the care plan.
This is general information, not a diagnosis — a clinical AbilityScore® and any diagnosis are formed only at a Pinnacle Blooms Network centre under qualified clinician care.
What to watch
Record the cytogenetically confirmed subtype (complete, translocation or mosaic) — distinct SNOMED CT concepts apply, and the subtype carries recurrence-risk implications for counselling.
Try this at home
Anchor the problem list with the SNOMED CT disorder concept, but plan therapy from the functioning profile, not the code — children sharing one code differ widely in support needs.
Trusted sources
Developed by SETU Consortium · Pinnacle Blooms Network · Last reviewed 2026-06-10 · reviewed every 365 days
This is general information, not a diagnosis. A clinical AbilityScore® and any diagnosis are formed only at a Pinnacle Blooms Network centre, under qualified clinician care.
Frequently asked
What is the SNOMED CT concept ID for Down syndrome?
The principal concept is 41040004 | Down syndrome (disorder) |. The full-trisomy form is 70156005 | Complete trisomy 21 syndrome (disorder) |, with separate concepts for translocation and mosaic types. Always verify against the current national edition release.
How does the SNOMED CT concept relate to ICD-11?
SNOMED CT 41040004 corresponds to ICD-11 LD40.0 (Trisomy 21). They are complementary: SNOMED CT supports EHR problem lists, decision support and interoperability, while ICD-11 serves statistical and reimbursement classification. Record both.
Does the SNOMED CT code determine therapy needs?
No. The terminology code documents the condition, not the child's functioning. Two children with the same code can differ markedly across communication, motor and cognitive domains, so therapy is planned from a structured developmental profile rather than the diagnostic code.