773300008: Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\...

\Hair finding\Disorder of hair\...

\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome

\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome

\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome

\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\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\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\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3723037015 Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3723038013 Whyte syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3723039017 Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome (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
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Existential restriction modifier
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome	Is a	Spondyloepimetaphyseal disorder	true	Inferred relationship	Existential restriction modifier
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome	Is a	Congenital hypotrichia	true	Inferred relationship	Existential restriction modifier
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Existential restriction modifier	1
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	2
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome	Finding site	Hair structure	true	Inferred relationship	Existential restriction modifier	1
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	2
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	3

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
3723037015	Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3723038013	Whyte syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3723039017	Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module