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

SNOMED CT Concept\Clinical finding\...

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

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

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

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

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Osteopenia, intellectual disability, sparse hair syndrome

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair 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\Osteopenia, intellectual disability, sparse hair 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\Osteopenia, intellectual disability, sparse hair syndrome

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

\General finding of observation of patient\Procedure related finding\Bone density finding\Bone density below reference range\Dysplasia with decreased bone density\Osteopenia, intellectual disability, sparse hair syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Osteopenia, intellectual disability, sparse hair 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\Osteopenia, intellectual disability, sparse hair 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\Osteopenia, intellectual disability, sparse hair syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Osteopenia, intellectual disability, sparse hair syndrome

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

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

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3498434019 Osteopenia, intellectual disability, sparse hair syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3498435018 Kaler Garrity Stern syndrome en Synonym Active Case sensitive SNOMED CT core

3498436017 Osteopenia, intellectual disability, sparse hair syndrome en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3498434019	Osteopenia, intellectual disability, sparse hair syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3498435018	Kaler Garrity Stern syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3498436017	Osteopenia, intellectual disability, sparse hair syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core