732954002: Osteopenia, intellectual disability, sparse hair syndrome (disorder)

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

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

\Hair finding\Disorder of hair\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome (disorder)

\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Osteopenia, intellectual disability, sparse hair syndrome (disorder)

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome (disorder)

\Procedure related finding\Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density below reference range\Dysplasia with decreased bone density\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Procedure related finding\Bone density finding (finding)\Bone density below reference range\Dysplasia with decreased bone density\Osteopenia, intellectual disability, sparse hair syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Osteopenia, intellectual disability, sparse hair syndrome (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome (disorder)

\Musculoskeletal finding\Bone finding\Bone density finding (finding)\Bone density below reference range\Dysplasia with decreased bone density\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Degenerative disorder of bone\Osteopenia\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteopenia\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Degenerative disorder of bone\Osteopenia\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Osteopenia, intellectual disability, sparse hair syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteopenia\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteopenia\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Degenerative disorder of bone\Osteopenia\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Osteopenia, intellectual disability, sparse hair syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	Is a	Congenital anomaly of hair	true	Inferred relationship	Some
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	Is a	retard mental	false	Inferred relationship	Some
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	Is a	Dysplasia with decreased bone density	true	Inferred relationship	Some
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	Is a	Osteopenia	true	Inferred relationship	Some
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	4
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	5
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	Finding site	Hair structure (body structure)	false	Inferred relationship	Some	5
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	6
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	6
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	Associated morphology	Osteopenia	false	Inferred relationship	Some	4
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	6
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	1
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	2
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	Associated morphology	Osteopenia	true	Inferred relationship	Some	2
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	Finding site	Hair structure (body structure)	true	Inferred relationship	Some	3
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	Interprets	Bone density scan	true	Inferred relationship	Some	4
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	5
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	5
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	6
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	6

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
3498434019	Osteopenia, intellectual disability, sparse hair syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498435018	Kaler Garrity Stern syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3498436017	Osteopenia, intellectual disability, sparse hair syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3499922012	A rare syndrome described in two sisters of Mennonite descent, with characteristics of sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
7663171000172115	syndrome d'ostéopénie, déficience intellectuelle et hypotrichose	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7663181000172117	syndrome de Kaler-Garrity-Stern	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5536821000172117	syndroom van osteopenie, verstandelijke beperking en dun haar	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5536831000172119	syndroom van Kaler-Garrity-Stern	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5536841000172114	syndroom van osteopenie, mentale retardatie en dun haar	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5536851000172111	syndroom van osteopenie, verstandelijke handicap en dun haar	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)