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715471007: Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
3302739016 Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3302740019 Mesomelic dysplasia with cleft palate and camptodactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3302742010 Reardon Hall Slaney syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3302743017 This syndrome manifests with mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3862141000052114 syndrom med mesomel dysplasi, kluven gom och kamptodaktyli sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept) Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Is a Camptodactyly true Inferred relationship Some
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Is a Cleft palate true Inferred relationship Some
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Is a Mesomelic dysplasia true Inferred relationship Some
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Is a Digestive system hereditary disorder (disorder) false Inferred relationship Some
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Associated morphology Flexion deformity false Inferred relationship Some 7
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Finding site Musculoskeletal structure of digit of hand false Inferred relationship Some 7
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Occurrence Congenital false Inferred relationship Some 8
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Occurrence Congenital false Inferred relationship Some 10
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Occurrence Congenital false Inferred relationship Some 9
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Finding site Finger structure false Inferred relationship Some 9
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Associated morphology Developmental anomaly (morphologic abnormality) false Inferred relationship Some 9
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Associated morphology Developmental anomaly (morphologic abnormality) false Inferred relationship Some 10
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Associated morphology kongenital dysplasi false Inferred relationship Some 8
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Finding site Bone structure false Inferred relationship Some 8
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Associated morphology medfödd utebliven fusion false Inferred relationship Some 6
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Finding site Palatal structure false Inferred relationship Some 6
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Finding site Structure of internal part of mouth false Inferred relationship Some 10
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Associated morphology medfödd utebliven fusion false Inferred relationship Some 1
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Finding site Palatal structure true Inferred relationship Some 1
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 2
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Finding site Palatal structure false Inferred relationship Some 2
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Finding site Finger structure false Inferred relationship Some 3
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 1
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Associated morphology Flexion deformity false Inferred relationship Some 2
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 4
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Finding site Musculoskeletal structure of digit of hand false Inferred relationship Some 2
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 3
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Associated morphology kongenital dysplasi false Inferred relationship Some 4
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Finding site Bone structure false Inferred relationship Some 4
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Finding site Skeletal system structure true Inferred relationship Some 3
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 3
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 4
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Associated morphology Fixed flexion deformity (morphologic abnormality) true Inferred relationship Some 2
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Finding site Musculoskeletal system structure of digit (body structure) true Inferred relationship Some 2
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 5
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Occurrence Congenital true Inferred relationship Some 5
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Finding site Bone structure of head true Inferred relationship Some 5
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Interprets Height / growth measure true Inferred relationship Some 6

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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