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254117007: Dysplasia with defective mineralization (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
378281019 Dysplasia with defective mineralization en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
378282014 Dysplasia with defective mineralisation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
644965011 Dysplasia with defective mineralization (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5081921000241116 Dysplasie avec un défaut de minéralisation fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

7 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Dysplasia with defective mineralization Is a Congenital skeletal dysplasia (disorder) true Inferred relationship Some
Dysplasia with defective mineralization Finding site Bone structure true Inferred relationship Some 1
Dysplasia with defective mineralization Finding site Skeletal system structure false Inferred relationship Some 1
Dysplasia with defective mineralization Occurrence Congenital false Inferred relationship Some
Dysplasia with defective mineralization Associated morphology Dysplasia true Inferred relationship Some 1
Dysplasia with defective mineralization Associated morphology Congenital dysplasia false Inferred relationship Some 1
Dysplasia with defective mineralization Associated morphology Congenital dysplasia false Inferred relationship Some 1
Dysplasia with defective mineralization Finding site Bone structure false Inferred relationship Some 1
Dysplasia with defective mineralization Occurrence Congenital true Inferred relationship Some 2
Dysplasia with defective mineralization Finding site Bone structure true Inferred relationship Some 2
Dysplasia with defective mineralization Associated morphology Congenital dysplasia false Inferred relationship Some 2
Dysplasia with defective mineralization Occurrence Congenital true Inferred relationship Some 1
Dysplasia with defective mineralization Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Dysplasia with defective mineralization Is a Congenital anomaly of skeletal bone true Inferred relationship Some
Dysplasia with defective mineralization Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Dysplasia with defective mineralization Associated morphology Impaired mineralization true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Familial x-linked hypophosphatemic vitamin D refractory rickets Is a True Dysplasia with defective mineralization Inferred relationship Some
Autosomal dominant hypophosphataemic bone disease Is a True Dysplasia with defective mineralization Inferred relationship Some
A rare primary bone dysplasia characterized by global developmental delay, hypotonia, ossification anomalies of the cranial vault, abnormalities of the long bones due to defective remodeling, thoracic deformity, and progressive osteopenia. Dysmorphic craniofacial features include microcephaly, hypertelorism, narrow mouth, cleft palate, and micrognathia. Is a True Dysplasia with defective mineralization Inferred relationship Some
A rare ciliopathy characterized by congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia), and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis. Is a True Dysplasia with defective mineralization Inferred relationship Some

This concept is not in any reference sets

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