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774155009: Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome (disorder)


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
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
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) Belgian module (core metadata concept)
939441000172111 syndrome SAMS (short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
985441000172115 kleine gestalte, gehoorkanaalatresie, mandibulaire hypoplasie, skeletale anomalieën-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
1009121000172113 SAMS (short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies)-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Finding site Bone structure of mandible true Inferred relationship Some 3
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Finding site Bone structure true Inferred relationship Some 1
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Is a Congenital micrognathism true Inferred relationship Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Finding site External auditory canal structure 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 Associated morphology 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 Is a Skeletal dysplasia true Inferred relationship Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Is a Short stature disorder true Inferred relationship Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Is a Congenital atresia of external auditory canal true Inferred relationship Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Associated morphology Hypoplasia true Inferred relationship Some 3
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Occurrence Congenital true Inferred relationship Some 2
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Is a Auditory system hereditary disorder true Inferred relationship Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Associated morphology Congenital atresia true Inferred relationship Some 2
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Occurrence Congenital true Inferred relationship Some 1
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Occurrence Congenital true Inferred relationship Some 3
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Associated morphology Dysplasia true Inferred relationship Some 1
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Occurrence Congenital 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 Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 4
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Finding site Face structure false Inferred relationship Some 4
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Interprets 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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