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205468002: Hypochondroplasia (disorder)

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

\Body measurement finding\Height / growth finding (finding)\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Hypochondroplasia

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Hypochondroplasia

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Hypochondroplasia
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Hypochondroplasia
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Hypochondroplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\Hypochondroplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Hypochondroplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Hypochondroplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Hypochondroplasia
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Hypochondroplasia
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Hypochondroplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Hypochondroplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Hypochondroplasia
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Hypochondroplasia

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hypochondroplasia	Is a	Congenital skeletal dysplasia (disorder)	true	Inferred relationship	Some
Hypochondroplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Hypochondroplasia	Finding site	Bone structure	true	Inferred relationship	Some	1
Hypochondroplasia	Occurrence	Congenital	false	Inferred relationship	Some
Hypochondroplasia	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Hypochondroplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Hypochondroplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Hypochondroplasia	Finding site	Bone structure	false	Inferred relationship	Some	1
Hypochondroplasia	Occurrence	Congenital	false	Inferred relationship	Some	2
Hypochondroplasia	Finding site	Bone structure	false	Inferred relationship	Some	2
Hypochondroplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Hypochondroplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Hypochondroplasia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Hypochondroplasia	Is a	Congenital malformation syndromes associated with short stature	true	Inferred relationship	Some
Hypochondroplasia	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Hypochondroplasia	Interprets	Height / growth measure	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
315057016	Hypochondroplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
315058014	Hypochondrodysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
590839019	Hypochondroplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
969481000172112	hypochondroplasie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3455391001000119	Hypochondroplasie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module