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720463009: Adducted thumbs and arthrogryposis syndrome Christian type (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
3320919013 Adducted thumbs and arthrogryposis syndrome Christian type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3320920019 Adducted thumbs and arthrogryposis syndrome Christian type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3320921015 A type of arthrogryposis with characteristics of congenital cleft palate, microcephaly, craniostenosis and arthrogryposis. Additional features include facial dysmorphism. Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core US English: Preferred (foundation metadata concept)
3320922010 A type of arthrogryposis with characteristics of congenital cleft palate, microcephaly, craniostenosis and arthrogryposis. Additional features include facial dysmorphism. Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalised muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleroedema are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Adducted thumbs and arthrogryposis syndrome Christian type (disorder) Finding site Thumb structure false Inferred relationship Some 5
Adducted thumbs and arthrogryposis syndrome Christian type (disorder) Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Adducted thumbs and arthrogryposis syndrome Christian type (disorder) Is a Inherited arthrogryposis true Inferred relationship Some
Adducted thumbs and arthrogryposis syndrome Christian type (disorder) Is a Amyoplasia congenita disruptive sequence (disorder) true Inferred relationship Some
Adducted thumbs and arthrogryposis syndrome Christian type (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Adducted thumbs and arthrogryposis syndrome Christian type (disorder) Is a Congenital malformation of thumb (disorder) true Inferred relationship Some
Adducted thumbs and arthrogryposis syndrome Christian type (disorder) Occurrence Congenital false Inferred relationship Some 4
Adducted thumbs and arthrogryposis syndrome Christian type (disorder) Finding site Joint structure false Inferred relationship Some 4
Adducted thumbs and arthrogryposis syndrome Christian type (disorder) Associated morphology dysgenese false Inferred relationship Some 5
Adducted thumbs and arthrogryposis syndrome Christian type (disorder) Occurrence Congenital false Inferred relationship Some 5
Adducted thumbs and arthrogryposis syndrome Christian type (disorder) Associated morphology dysgenese false Inferred relationship Some 6
Adducted thumbs and arthrogryposis syndrome Christian type (disorder) Occurrence Congenital false Inferred relationship Some 6
Adducted thumbs and arthrogryposis syndrome Christian type (disorder) Occurrence Congenital false Inferred relationship Some 7
Adducted thumbs and arthrogryposis syndrome Christian type (disorder) Associated morphology dysgenese false Inferred relationship Some 4
Adducted thumbs and arthrogryposis syndrome Christian type (disorder) Associated morphology Contracture false Inferred relationship Some 7
Adducted thumbs and arthrogryposis syndrome Christian type (disorder) Finding site Joint structure false Inferred relationship Some 7
Adducted thumbs and arthrogryposis syndrome Christian type (disorder) Finding site Face structure false Inferred relationship Some 6
Adducted thumbs and arthrogryposis syndrome Christian type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Adducted thumbs and arthrogryposis syndrome Christian type (disorder) Occurrence Congenital true Inferred relationship Some 3
Adducted thumbs and arthrogryposis syndrome Christian type (disorder) Associated morphology Contracture true Inferred relationship Some 3
Adducted thumbs and arthrogryposis syndrome Christian type (disorder) Finding site Joint structure false Inferred relationship Some 3
Adducted thumbs and arthrogryposis syndrome Christian type (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Adducted thumbs and arthrogryposis syndrome Christian type (disorder) Occurrence Congenital true Inferred relationship Some 1
Adducted thumbs and arthrogryposis syndrome Christian type (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Adducted thumbs and arthrogryposis syndrome Christian type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Adducted thumbs and arthrogryposis syndrome Christian type (disorder) Occurrence Congenital true Inferred relationship Some 2
Adducted thumbs and arthrogryposis syndrome Christian type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Adducted thumbs and arthrogryposis syndrome Christian type (disorder) Finding site Thumb structure true Inferred relationship Some 1
Adducted thumbs and arthrogryposis syndrome Christian type (disorder) Finding site Face structure true Inferred relationship Some 2
Adducted thumbs and arthrogryposis syndrome Christian type (disorder) Interprets Range of joint movement true Inferred relationship Some 4
Adducted thumbs and arthrogryposis syndrome Christian type (disorder) Has interpretation Decreased true Inferred relationship Some 4
Adducted thumbs and arthrogryposis syndrome Christian type (disorder) Finding site Structure of joint region true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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