7720002: Metaphyseal chondrodysplasia, McKusick type (disorder)

SNOMED CT Concept\Clinical finding\...

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

\General finding of observation of patient\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

\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 of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type
\Musculoskeletal finding\Bone finding\Disorder of bone\Osteochondropathy\Metaphyseal chondrodysplasia, McKusick type
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Metaphyseal chondrodysplasia, McKusick type
\Musculoskeletal finding\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Cartilage disorder\Osteochondropathy\Metaphyseal chondrodysplasia, McKusick type
\Musculoskeletal finding\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Cartilage disorder\Congenital anomaly of cartilage\Metaphyseal chondrodysplasia, McKusick type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Osteochondropathy\Metaphyseal chondrodysplasia, McKusick type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Cartilage disorder\Osteochondropathy\Metaphyseal chondrodysplasia, McKusick type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Cartilage disorder\Congenital anomaly of cartilage\Metaphyseal chondrodysplasia, McKusick type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Metaphyseal chondrodysplasia, McKusick type
\Musculoskeletal finding\Musculoskeletal disorder\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\Inherited disorder of connective tissue\Metaphyseal chondrodysplasia, McKusick type
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Metaphyseal chondrodysplasia, McKusick type
\Disease\Disorder of body system\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Cartilage disorder\Osteochondropathy\Metaphyseal chondrodysplasia, McKusick type
\Disease\Disorder of body system\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Cartilage disorder\Congenital anomaly of cartilage\Metaphyseal chondrodysplasia, McKusick type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Osteochondropathy\Metaphyseal chondrodysplasia, McKusick type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Cartilage disorder\Osteochondropathy\Metaphyseal chondrodysplasia, McKusick type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Cartilage disorder\Congenital anomaly of cartilage\Metaphyseal chondrodysplasia, McKusick type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Metaphyseal chondrodysplasia, McKusick type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type
\Disease\Disorder of connective tissue\Inherited disorder of connective tissue\Metaphyseal chondrodysplasia, McKusick type
\Disease\Disorder of connective tissue\Congenital connective tissue disorder\Congenital anomaly of cartilage\Metaphyseal chondrodysplasia, McKusick type
\Disease\Disorder of connective tissue\Musculoskeletal and connective tissue disorder\Cartilage disorder\Osteochondropathy\Metaphyseal chondrodysplasia, McKusick type
\Disease\Disorder of connective tissue\Musculoskeletal and connective tissue disorder\Cartilage disorder\Congenital anomaly of cartilage\Metaphyseal chondrodysplasia, McKusick type
\Disease\Congenital disease\Congenital connective tissue disorder\Congenital anomaly of cartilage\Metaphyseal chondrodysplasia, McKusick type
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Metaphyseal chondrodysplasia, McKusick type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type
\Disease\Developmental disorder\Disorder of bone development\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 anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal chondrodysplasia, McKusick type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Metaphyseal chondrodysplasia, McKusick type
\Disease\Developmental disorder\Congenital anomaly\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, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1234077015 Cartilage hair syndrome en Synonym Active Case insensitive SNOMED CT core
13769017 Metaphyseal chondrodysplasia, McKusick type en Synonym Active Initial character case insensitive SNOMED CT core
13770016 Cartilage-hair hypoplasia syndrome en Synonym Active Case insensitive SNOMED CT core
818004014 Metaphyseal chondrodysplasia, McKusick type (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Metaphyseal chondrodysplasia, McKusick type	Finding site	Cartilage structure	true	Inferred relationship	Some	2
Metaphyseal chondrodysplasia, McKusick type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Metaphyseal chondrodysplasia, McKusick type	Pathological process	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	Inherited disorder of connective tissue	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
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	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	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	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	Finding site	Cartilaginous tissue structure	false	Inferred relationship	Some	2
Metaphyseal chondrodysplasia, McKusick type	Associated morphology	Hypoplasia	true	Inferred relationship	Some	2

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

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

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