| syndroom van choanale atresie, agenesie van tepel, hypothyreoïdie, vertraagde puberteit en kleine gestalte (aandoening) | | syndroom van choanale atresie, agenesie van tepel, hypothyreoïdie, vertraagde puberteit en kleine gestalte | | syndroom van choanenatresie, athelie, hypothyroïdie, pubertas tarda en kleine lichaamslengte
KMT2D-gerelateerde choaneatresie, athelie, hypothyreoïdie, vertraagde puberteit en kleine lichaamslengte
| | Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome | | KMT2D-related choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome
Lysine methyltransferase 2D-related choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome
| | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of choanal atresia, athelia or hypoplastic nipples, branchial arch abnormalities, external ear malformations, hearing loss, thyroid abnormalities, delayed or absent pubertal development and short stature. Developmental delay/intellectual disabilities are variably reported. |
| | Id | 1281843005 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 589856 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | 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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