| syndroom van kleine gestalte, onychodysplasie, faciale dysmorfie en hypotrichose (aandoening) | | syndroom van kleine gestalte, onychodysplasie, faciale dysmorfie en hypotrichose | | SOFT-syndroom
| | Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome | | SOFT syndrome
SOFT (short stature, onychodysplasia, facial dysmorphism, hypotrichosis) syndrome
| | A rare genetic primary bone dysplasia disorder with characteristics of severe pre and post-natal short stature, facial dysmorphism (including dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears) early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, brachydactyly and fifth-finger clinodactyly as well as a high-pitched voice are also associated. There is evidence the disease can be caused by homozygous mutation in the POC1A gene on chromosome 3p21. |
| | Id | 773625007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.1 | | Term | Congenitale gestoorde-ontwikkelingssyndromen voornamelijk gepaard gaande met kleine gestalte |
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| SNOMED CT to Orphanet simple map | 314394 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.1 | | Rule | TRUE | | Advice | ALWAYS Q87.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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