Haspeslagh Fryns Muelenaere syndrome 716090004
SNOMED CT code
| SNOMED code | 716090004 |
|---|---|
| name | Haspeslagh Fryns Muelenaere syndrome |
| status | active |
| date introduced | 2016-07-31 |
| fully specified name(s) | Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder) |
| synonyms |
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| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Genital structure 71934003 |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Hypoplasia 55199003 |
| attributes - group3 | |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Occurrence | Congenital 255399007 |
| Finding site | Face structure 89545001 |
| attributes - group2 | |
| Finding site | Bone structure of head 272679001 |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Occurrence | Congenital 255399007 |
| attributes - group4 | |
| Interprets | Height / growth measure 271603002 |
| parents |
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| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal dominant hereditary disorder 11164009 Haspeslagh Fryns Muelenaere syndrome 716090004 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of trunk structure 302292003 Finding of abdominopelvic segment of trunk 822987005 Urogenital finding 118238000 Genital finding 300479008 Congenital malformation of genital organs 204821009 Haspeslagh Fryns Muelenaere syndrome 716090004 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of general physiological development 271616002 Disorder of stature 237834000 Short stature disorder 237836003 Haspeslagh Fryns Muelenaere syndrome 716090004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of head 118934005 Congenital anomaly of head 87290003 Congenital abnormality of skull and face bones 268239009 Haspeslagh Fryns Muelenaere syndrome 716090004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Haspeslagh Fryns Muelenaere syndrome 716090004 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Haspeslagh Fryns Muelenaere syndrome 716090004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Hereditary disorder by system 363137000 Reproductive system hereditary disorder 363290007 Haspeslagh Fryns Muelenaere syndrome 716090004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of head 118934005 Disorder of face 118930001 Congenital anomaly of face 398302004 Multiple malformation syndrome with facial defects as major feature 65094009 Haspeslagh Fryns Muelenaere syndrome 716090004 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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