syndroom van hypertrichose, kleine gestalte, faciale dysmorfie en ontwikkelingsachterstand (aandoening) | | syndroom van hypertrichose, kleine gestalte, faciale dysmorfie en ontwikkelingsachterstand | | syndroom van Wiedemann-Steiner
|  | Dit betekent dat je bent geboren met problemen met je hersenen en je lichaam. Je bent klein en je gezicht ziet er anders uit dan normaal. Je hebt ook meer haar dan normaal. En je hebt moeite met leren en nieuwe dingen begrijpen. | | Wiedemann Steiner syndrome | | Hypertrichosis, short stature, facial dysmorphism, developmental delay syndrome
| | A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis (most commonly of the back or elbow regions), facial dysmorphism, behavioral problems, developmental delay and, most commonly, mild to moderate intellectual disability. |
| Id | 763618001 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
SNOMED CT to Orphanet simple map | 319182 |
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 |
|
|