398958000: Chondrodysplasia punctata, X-linked dominant type (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Chondrodysplasia punctata, X-linked dominant type

\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Chondrodysplasia punctata, X-linked dominant type
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Chondrodysplasia punctata, X-linked dominant type

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Chondrodysplasia punctata, X-linked dominant type
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Chondrodysplasia punctata, X-linked dominant type
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Chondrodysplasia punctata, X-linked dominant type
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Chondrodysplasia punctata, X-linked dominant type

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked dominant type
\Musculoskeletal finding\Bone finding\Disorder of bone\Metabolic bone disease\Chondrodysplasia punctata, X-linked dominant type
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Chondrodysplasia punctata, X-linked dominant type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked dominant type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked dominant type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Chondrodysplasia punctata, X-linked dominant type
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked dominant type
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked dominant type

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Chondrodysplasia punctata, X-linked dominant type
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Chondrodysplasia punctata, X-linked dominant type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Chondrodysplasia punctata, X-linked dominant type
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dominant hereditary disease\Chondrodysplasia punctata, X-linked dominant type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Chondrodysplasia punctata, X-linked dominant type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Chondrodysplasia punctata, X-linked dominant type
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Chondrodysplasia punctata, X-linked dominant type
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Chondrodysplasia punctata, X-linked dominant type
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Chondrodysplasia punctata, X-linked dominant type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Chondrodysplasia punctata, X-linked dominant type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked dominant type
\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\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked dominant type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Chondrodysplasia punctata, X-linked dominant type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked dominant type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked dominant type
\Disease\Metabolic disease\Metabolic bone disease\Chondrodysplasia punctata, X-linked dominant type
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid metabolism\Disorder of cholesterol metabolism\Disorder of cholesterol synthesis\Chondrodysplasia punctata, X-linked dominant type
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Disorder of cholesterol synthesis\Chondrodysplasia punctata, X-linked dominant type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked dominant type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked dominant type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Chondrodysplasia punctata, X-linked dominant type
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Chondrodysplasia punctata, X-linked dominant type
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked dominant type
\Disease\Developmental disorder\Developmental hereditary disorder\Chondrodysplasia punctata, X-linked dominant type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked dominant type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia punctata\Chondrodysplasia punctata, X-linked dominant type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Chondrodysplasia punctata, X-linked dominant type

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2003. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

1766878011 Chondrodysplasia punctata, X-linked dominant type (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

1778432019 Chondrodysplasia punctata, X-linked dominant type en Synonym Active Only initial character case insensitive SNOMED CT core module

4594527011 Conradi Hünermann Happle syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

4594528018 X-linked chondrodysplasia punctata type 2 en Synonym Active Entire term case sensitive SNOMED CT core module

4594529014 Chondrodystrophia calcificans congenita en Synonym Active Entire term case insensitive SNOMED CT core module

4594530016 Happle syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Chondrodysplasia punctata, X-linked dominant type	Is a	Chondrodysplasia punctata	true	Inferred relationship	Existential restriction modifier
Chondrodysplasia punctata, X-linked dominant type	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Chondrodysplasia punctata, X-linked dominant type	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Chondrodysplasia punctata, X-linked dominant type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Chondrodysplasia punctata, X-linked dominant type	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Chondrodysplasia punctata, X-linked dominant type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Chondrodysplasia punctata, X-linked dominant type	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Chondrodysplasia punctata, X-linked dominant type	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Chondrodysplasia punctata, X-linked dominant type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Chondrodysplasia punctata, X-linked dominant type	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Chondrodysplasia punctata, X-linked dominant type	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Chondrodysplasia punctata, X-linked dominant type	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Chondrodysplasia punctata, X-linked dominant type	Is a	X-linked dominant hereditary disease	true	Inferred relationship	Existential restriction modifier
Chondrodysplasia punctata, X-linked dominant type	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Chondrodysplasia punctata, X-linked dominant type	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Chondrodysplasia punctata, X-linked dominant type	Is a	Disorder of cholesterol synthesis	true	Inferred relationship	Existential restriction modifier
Chondrodysplasia punctata, X-linked dominant type	Is a	Genodermatosis	true	Inferred relationship	Existential restriction modifier
Chondrodysplasia punctata, X-linked dominant type	Is a	Hereditary disorder of the integument	true	Inferred relationship	Existential restriction modifier
Chondrodysplasia punctata, X-linked dominant type	Is a	Metabolic bone disease	true	Inferred relationship	Existential restriction modifier
Chondrodysplasia punctata, X-linked dominant type	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier	2
Chondrodysplasia punctata, X-linked dominant type	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Chondrodysplasia punctata, X-linked dominant type	Pathological process	Pathological developmental process	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
1766878011	Chondrodysplasia punctata, X-linked dominant type (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
1778432019	Chondrodysplasia punctata, X-linked dominant type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
4594527011	Conradi Hünermann Happle syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
4594528018	X-linked chondrodysplasia punctata type 2	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
4594529014	Chondrodystrophia calcificans congenita	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
4594530016	Happle syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module