7720002: Metaphyseal chondrodysplasia, McKusick type (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type

\Musculoskeletal finding\Cartilage finding\Cartilage disorder\Osteochondropathy\Metaphyseal chondrodysplasia, McKusick type
\Musculoskeletal finding\Cartilage finding\Cartilage disorder\Congenital anomaly of cartilage\Metaphyseal chondrodysplasia, McKusick type
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Osteochondropathy\Metaphyseal chondrodysplasia, McKusick type
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Metaphyseal chondrodysplasia, McKusick type
\Musculoskeletal finding\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Osteochondropathy\Metaphyseal chondrodysplasia, McKusick type
\Musculoskeletal finding\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Congenital anomaly of cartilage\Metaphyseal chondrodysplasia, McKusick type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Osteochondropathy\Metaphyseal chondrodysplasia, McKusick type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Cartilage disorder\Osteochondropathy\Metaphyseal chondrodysplasia, McKusick type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Cartilage disorder\Congenital anomaly of cartilage\Metaphyseal chondrodysplasia, McKusick type
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Metaphyseal chondrodysplasia, McKusick type
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Metaphyseal chondrodysplasia, McKusick type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Metaphyseal chondrodysplasia, McKusick type
\Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder (disorder)\Metaphyseal chondrodysplasia, McKusick type
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Metaphyseal chondrodysplasia, McKusick type
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital connective tissue disorder\Congenital anomaly of cartilage\Metaphyseal chondrodysplasia, McKusick type
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Metaphyseal chondrodysplasia, McKusick type
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Metaphyseal chondrodysplasia, McKusick type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Metaphyseal chondrodysplasia, McKusick type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Osteochondropathy\Metaphyseal chondrodysplasia, McKusick type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Congenital anomaly of cartilage\Metaphyseal chondrodysplasia, McKusick type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Osteochondropathy\Metaphyseal chondrodysplasia, McKusick type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Cartilage disorder\Osteochondropathy\Metaphyseal chondrodysplasia, McKusick type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Cartilage disorder\Congenital anomaly of cartilage\Metaphyseal chondrodysplasia, McKusick type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Metaphyseal chondrodysplasia, McKusick type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type
\Disease\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder (disorder)\Metaphyseal chondrodysplasia, McKusick type
\Disease\Disorder of connective tissue (disorder)\Congenital connective tissue disorder\Congenital anomaly of cartilage\Metaphyseal chondrodysplasia, McKusick type
\Disease\Disorder of connective tissue (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Osteochondropathy\Metaphyseal chondrodysplasia, McKusick type
\Disease\Disorder of connective tissue (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Congenital anomaly of cartilage\Metaphyseal chondrodysplasia, McKusick type
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type
\Disease\Developmental disorder\Developmental hereditary disorder\Metaphyseal chondrodysplasia, McKusick type
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Metaphyseal chondrodysplasia, McKusick type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type

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

13769017 Metaphyseal chondrodysplasia, McKusick type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

13770016 Cartilage-hair hypoplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

818004014 Metaphyseal chondrodysplasia, McKusick type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

1234077015 Cartilage hair syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

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	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	Occurrence	Congenital	false	Inferred relationship	Some
Metaphyseal chondrodysplasia, McKusick type	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Metaphyseal chondrodysplasia, McKusick type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Metaphyseal chondrodysplasia, McKusick type	Is a	Osteochondropathy	true	Inferred relationship	Some
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	1
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	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	2
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	2
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	2
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	2
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	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
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	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	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	Occurrence	Congenital	true	Inferred relationship	Some	2
Metaphyseal chondrodysplasia, McKusick type	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Metaphyseal chondrodysplasia, McKusick type	Interprets	Height / growth measure	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency	Is a	False	Metaphyseal chondrodysplasia, McKusick type	Inferred relationship	Some

Reference Sets

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