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7720002: Metaphyseal chondrodysplasia, McKusick type (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
13769017 Metaphyseal chondrodysplasia, McKusick type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
13770016 Cartilage-hair hypoplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
818004014 Metaphyseal chondrodysplasia, McKusick type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
1234077015 Cartilage hair syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)

1 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Metaphyseal chondrodysplasia, McKusick type Is a Metaphyseal chondrodysplasia true Inferred relationship Some
Metaphyseal chondrodysplasia, McKusick type Is a Congenital anomaly of cartilage true Inferred relationship Some
Metaphyseal chondrodysplasia, McKusick type Occurrence Congenital false Inferred relationship Some
Metaphyseal chondrodysplasia, McKusick type Is a Osteochondropathy true Inferred relationship Some
Metaphyseal chondrodysplasia, McKusick type Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Metaphyseal chondrodysplasia, McKusick type Is a Connective tissue hereditary disorder (disorder) true Inferred relationship Some
Metaphyseal chondrodysplasia, McKusick type Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Metaphyseal chondrodysplasia, McKusick type Finding site Cartilaginous tissue structure false Inferred relationship Some 1
Metaphyseal chondrodysplasia, McKusick type Associated morphology Dysplasia true Inferred relationship Some 1
Metaphyseal chondrodysplasia, McKusick type Finding site Bone structure true Inferred relationship Some 1
Metaphyseal chondrodysplasia, McKusick type Associated morphology Hypoplasia false Inferred relationship Some 1
Metaphyseal chondrodysplasia, McKusick type Finding site Skeletal system structure false Inferred relationship Some 1
Metaphyseal chondrodysplasia, McKusick type Finding site Bone structure false Inferred relationship Some 1
Metaphyseal chondrodysplasia, McKusick type Finding site Bone structure false Inferred relationship Some 1
Metaphyseal chondrodysplasia, McKusick type Finding site Bone structure false Inferred relationship Some 1
Metaphyseal chondrodysplasia, McKusick type Finding site Bone structure false Inferred relationship Some 1
Metaphyseal chondrodysplasia, McKusick type Finding site Bone structure false Inferred relationship Some 1
Metaphyseal chondrodysplasia, McKusick type Finding site Bone structure false Inferred relationship Some 1
Metaphyseal chondrodysplasia, McKusick type Finding site Bone structure false Inferred relationship Some 1
Metaphyseal chondrodysplasia, McKusick type Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Metaphyseal chondrodysplasia, McKusick type Associated morphology Congenital dysplasia false Inferred relationship Some 1
Metaphyseal chondrodysplasia, McKusick type Occurrence Congenital true Inferred relationship Some 1
Metaphyseal chondrodysplasia, McKusick type Associated morphology Congenital dysplasia false Inferred relationship Some 2
Metaphyseal chondrodysplasia, McKusick type Finding site Bone structure false Inferred relationship Some 2
Metaphyseal chondrodysplasia, McKusick type Finding site Bone structure false Inferred relationship Some 2
Metaphyseal chondrodysplasia, McKusick type Finding site Bone structure false Inferred relationship Some 2
Metaphyseal chondrodysplasia, McKusick type Finding site Bone structure false Inferred relationship Some 2
Metaphyseal chondrodysplasia, McKusick type Finding site Bone structure false Inferred relationship Some 2
Metaphyseal chondrodysplasia, McKusick type Finding site Bone structure false Inferred relationship Some 2
Metaphyseal chondrodysplasia, McKusick type Finding site Bone structure false Inferred relationship Some 2
Metaphyseal chondrodysplasia, McKusick type Finding site Cartilaginous tissue structure false Inferred relationship Some 2
Metaphyseal chondrodysplasia, McKusick type Associated morphology Hypoplasia true Inferred relationship Some 2
Metaphyseal chondrodysplasia, McKusick type Finding site Cartilage structure (body structure) true Inferred relationship Some 2
Metaphyseal chondrodysplasia, McKusick type Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Metaphyseal chondrodysplasia, McKusick type Occurrence Congenital true Inferred relationship Some 2
Metaphyseal chondrodysplasia, McKusick type Occurrence Congenital false Inferred relationship Some 3
Metaphyseal chondrodysplasia, McKusick type Finding site Bone structure false Inferred relationship Some 3
Metaphyseal chondrodysplasia, McKusick type Associated morphology Congenital dysplasia false Inferred relationship Some 3
Inbound Relationships Type Active Source Characteristic Refinability Group
Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Is a True Metaphyseal chondrodysplasia, McKusick type Inferred relationship Some

Reference Sets

GB English

US English

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