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774155009: syndrome de petite taille-atrésie du canal auditif-hypoplasie mandibulaire-anomalies squelettiques (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
3728167013 Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3728168015 Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3728169011 SAMS syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3728170012 SAMS (short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
772341000241113 syndrome de petite taille-atrésie du canal auditif-hypoplasie mandibulaire-anomalies squelettiques (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
922641000172118 syndrome de petite taille-atrésie du canal auditif-hypoplasie mandibulaire-anomalies squelettiques fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
939441000172111 syndrome SAMS (short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3728171011 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate and simple, dysplastic pinnae with preauricular pits/tags. Caused by homozygous mutation in the GSC gene on chromosome 14q32. 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
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome localisation d'une constatation (attribut) os de la mandibule true Inferred relationship Some 3
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome localisation d'une constatation (attribut) structure osseuse true Inferred relationship Some 1
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome est un(e) (attribut) Congenital micrognathism true Inferred relationship Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome localisation d'une constatation (attribut) méat acoustique externe (structure corporelle) true Inferred relationship Some 2
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 1
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome est un(e) (attribut) Skeletal dysplasia true Inferred relationship Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome est un(e) (attribut) insuffisance staturale true Inferred relationship Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome est un(e) (attribut) Congenital atresia of external auditory canal true Inferred relationship Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome morphologie associée (attribut) Hypoplasia (morphologic abnormality) true Inferred relationship Some 3
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome survenue (attribut) congénital true Inferred relationship Some 2
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome est un(e) (attribut) Auditory system hereditary disorder true Inferred relationship Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome morphologie associée (attribut) Congenital atresia (morphologic abnormality) true Inferred relationship Some 2
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome survenue (attribut) congénital true Inferred relationship Some 1
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome survenue (attribut) congénital true Inferred relationship Some 3
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome morphologie associée (attribut) dysplasie true Inferred relationship Some 1
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome survenue (attribut) congénital false Inferred relationship Some 4
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 4
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome morphologie associée (attribut) structure anormale sur le plan morphologique false Inferred relationship Some 4
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome localisation d'une constatation (attribut) face false Inferred relationship Some 4
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome interprète (attribut) Height / growth measure true Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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