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763213001: Conductive deafness, ptosis, skeletal anomalies syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3638186014 Jackson Barr syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3638187017 Conductive deafness, ptosis, skeletal anomalies syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3638188010 Conductive deafness, ptosis, skeletal anomalies syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403970011 Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403971010 Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterised by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3638186014 Jackson Barr syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3638187017 Conductive deafness, ptosis, skeletal anomalies syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3638188010 Conductive deafness, ptosis, skeletal anomalies syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3638189019 A rare genetic ectodermal dysplasia syndrome with characteristics of conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403970011 Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403971010 Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterised by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3439351001000112 Schallleitungsschwerhörigkeit-Ptosis-Skelettanomalien-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
940251000172116 syndrome de surdité-ptosis-anomalies squelettiques fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1008791000172119 syndrome de Jackson-Barr fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
940251000172116 syndrome de surdité-ptosis-anomalies squelettiques fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1008791000172119 syndrome de Jackson-Barr fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3439351001000112 Schallleitungsschwerhörigkeit-Ptosis-Skelettanomalien-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Conductive deafness, ptosis, skeletal anomalies syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Conductive deafness, ptosis, skeletal anomalies syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Conductive deafness, ptosis, skeletal anomalies syndrome Is a Skin lesion true Inferred relationship Existential restriction modifier (core metadata concept)
Conductive deafness, ptosis, skeletal anomalies syndrome Is a Ectodermal dysplasia with hair-tooth defects true Inferred relationship Existential restriction modifier (core metadata concept)
Conductive deafness, ptosis, skeletal anomalies syndrome Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Conductive deafness, ptosis, skeletal anomalies syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Conductive deafness, ptosis, skeletal anomalies syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Conductive deafness, ptosis, skeletal anomalies syndrome Finding site Ectoderm structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Conductive deafness, ptosis, skeletal anomalies syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Conductive deafness, ptosis, skeletal anomalies syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Conductive deafness, ptosis, skeletal anomalies syndrome Finding site Ectoderm structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Conductive deafness, ptosis, skeletal anomalies syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Conductive deafness, ptosis, skeletal anomalies syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Conductive deafness, ptosis, skeletal anomalies syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Conductive deafness, ptosis, skeletal anomalies syndrome Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Conductive deafness, ptosis, skeletal anomalies syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Conductive deafness, ptosis, skeletal anomalies syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Conductive deafness, ptosis, skeletal anomalies syndrome Finding site Hair structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Conductive deafness, ptosis, skeletal anomalies syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Conductive deafness, ptosis, skeletal anomalies syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Conductive deafness, ptosis, skeletal anomalies syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Conductive deafness, ptosis, skeletal anomalies syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Conductive deafness, ptosis, skeletal anomalies syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Conductive deafness, ptosis, skeletal anomalies syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Conductive deafness, ptosis, skeletal anomalies syndrome Finding site Tooth structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Conductive deafness, ptosis, skeletal anomalies syndrome Is a Digestive system hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Conductive deafness, ptosis, skeletal anomalies syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Conductive deafness, ptosis, skeletal anomalies syndrome Is a Hereditary disorder of tooth true Inferred relationship Existential restriction modifier (core metadata concept)
Conductive deafness, ptosis, skeletal anomalies syndrome Is a Oral lesion (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Conductive deafness, ptosis, skeletal anomalies syndrome Is a Malformation of teeth (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Conductive deafness, ptosis, skeletal anomalies syndrome Finding site Dentition true Inferred relationship Existential restriction modifier (core metadata concept) 4
Conductive deafness, ptosis, skeletal anomalies syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 4
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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