205468002: Hypochondroplasia (disorder)

SNOMED CT Concept\Clinical finding\...

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

\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\Hypochondroplasia

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Hypochondroplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Hypochondroplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Hypochondroplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Hypochondroplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Hypochondroplasia

\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Hypochondroplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Hypochondroplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Hypochondroplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Hypochondroplasia
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Hypochondroplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Hypochondroplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Hypochondroplasia
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Hypochondroplasia
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Hypochondroplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\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. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

315057016 Hypochondroplasia en Synonym Active Entire term case insensitive SNOMED CT core module

315058014 Hypochondrodysplasia en Synonym Active Entire term case insensitive SNOMED CT core module

590839019 Hypochondroplasia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hypochondroplasia	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Existential restriction modifier
Hypochondroplasia	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Hypochondroplasia	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Hypochondroplasia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Hypochondroplasia	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier	1
Hypochondroplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Hypochondroplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Hypochondroplasia	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Hypochondroplasia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Hypochondroplasia	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Hypochondroplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Hypochondroplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Hypochondroplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Hypochondroplasia	Is a	Congenital malformation syndromes associated with short stature	true	Inferred relationship	Existential restriction modifier
Hypochondroplasia	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier
Hypochondroplasia	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	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	Active	Entire term case insensitive	SNOMED CT core module
315058014	Hypochondrodysplasia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
590839019	Hypochondroplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module