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773622005: syndrome de dysplasie craniofaciale et ostéopénie (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3724853014 Craniofacial dysplasia osteopenia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3724854015 Hamamy syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3724855019 Craniofacial dysplasia osteopenia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
771671000241119 syndrome de dysplasie craniofaciale et ostéopénie (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
929931000172112 syndrome de dysplasie craniofaciale et ostéopénie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
944871000172116 syndrome de Hamamy fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3724856018 A rare genetic developmental defect during embryogenesis disorder with characteristics of craniofacial dysmorphism (including brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability. There is evidence the disease can be caused by homozygous mutation in the IRX5 gene on chromosome 16q11.2. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Craniofacial dysplasia osteopenia syndrome est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Craniofacial dysplasia osteopenia syndrome localisation d'une constatation (attribut) face true Inferred relationship Some 1
Craniofacial dysplasia osteopenia syndrome morphologie associée (attribut) Osteopenia true Inferred relationship Some 3
Craniofacial dysplasia osteopenia syndrome est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Craniofacial dysplasia osteopenia syndrome est un(e) (attribut) Osteopenia true Inferred relationship Some
Craniofacial dysplasia osteopenia syndrome est un(e) (attribut) anomalie congénitale du crâne (trouble) true Inferred relationship Some
Craniofacial dysplasia osteopenia syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Craniofacial dysplasia osteopenia syndrome morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Craniofacial dysplasia osteopenia syndrome survenue (attribut) congénital true Inferred relationship Some 1
Craniofacial dysplasia osteopenia syndrome localisation d'une constatation (attribut) crâne (structure corporelle) true Inferred relationship Some 2
Craniofacial dysplasia osteopenia syndrome localisation d'une constatation (attribut) structure osseuse true Inferred relationship Some 3
Craniofacial dysplasia osteopenia syndrome morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Craniofacial dysplasia osteopenia syndrome survenue (attribut) congénital true Inferred relationship Some 2
Craniofacial dysplasia osteopenia syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Craniofacial dysplasia osteopenia syndrome est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Craniofacial dysplasia osteopenia syndrome est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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