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77701002: Multiple malformation syndrome, moderate short stature, facial (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
128959018 Multiple malformation syndrome, moderate short stature, facial en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
128961010 Multiple malformation syndrome, moderate short stature, facial with or without genital features en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
818561014 Multiple malformation syndrome, moderate short stature, facial (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4643731000241112 syndrome d'anomalies congénitales multiples faciales, retard statural moyen fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

8 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Multiple malformation syndrome, moderate short stature, facial Is a Multiple system malformation syndrome true Inferred relationship Some
Multiple malformation syndrome, moderate short stature, facial Occurrence Congenital false Inferred relationship Some
Multiple malformation syndrome, moderate short stature, facial Associated morphology Congenital malformation false Inferred relationship Some
Multiple malformation syndrome, moderate short stature, facial Occurrence Congenital true Inferred relationship Some 1
Multiple malformation syndrome, moderate short stature, facial Associated morphology anomalie du développement false Inferred relationship Some 1
Multiple malformation syndrome, moderate short stature, facial Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Multiple malformation syndrome, moderate short stature, facial Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Brachycephalic dwarfism Is a False Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Aarskog syndrome Is a True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Dolichocephalic dwarfism Is a True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Smith-Lemli-Opitz syndrome Is a True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Williams syndrome (disorder) Is a False Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia. Is a False Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Opitz-Frias syndrome Is a True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Noonan syndrome Is a False Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Bovine achondroplasia Is a False Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Noonan's syndrome Is a True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
A rare developmental defect during embryogenesis malformation syndrome characterized by proportionate short stature, sensorineural deafness, mutism, facial dysmorphism and recurrent infections as a result of abnormal neutrophil chemotaxis. There have been no further descriptions in the literature since 1978. Is a True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Short stature-valvular heart disease-characteristic facies syndrome is characterized by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait. Is a True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
Robinow-like syndrome Is a False Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some
A Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome, loose anagen hair, frequent congenital heart defects, distinctive skin features (darkly pigmented skin, keratosis pilaris, eczema or icthyosis), and short stature that is often associated with a growth hormone deficiency. Psychomotor delay with attention deficit/hyperactivity disorder (ADHD) is frequently observed. Is a True Multiple malformation syndrome, moderate short stature, facial Inferred relationship Some

This concept is not in any reference sets

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