716189005: Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome (disorder)

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Heide syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Heide syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Heide syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Heide syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Heide syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Heide syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Heide syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Heide syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Heide syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Heide syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly (disorder)\Heide syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Heide syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Heide syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Heide syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Heide syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Heide syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Heide syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Heide syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Heide syndrome
\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\Heide syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Heide syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Heide syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital macrocephaly (disorder)\Heide syndrome
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Heide syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Heide syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Heide syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly (disorder)\Heide syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Heide syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Heide syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3305025017 Heide syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3305027013 Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3305028015 Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3305029011 Osteoporosis and macrocephaly with blindness and joint hyperlaxity syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5401247018 A rare genetic disease characterized by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401248011 A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Heide syndrome	Is a	Macrocephaly	false	Inferred relationship	Some
Heide syndrome	Is a	Skeletal dysplasia	true	Inferred relationship	Some
Heide syndrome	Is a	Congenital anomaly of visual system	true	Inferred relationship	Some
Heide syndrome	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Heide syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Heide syndrome	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Heide syndrome	Associated morphology	Congenital enlargement	false	Inferred relationship	Some	3
Heide syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Heide syndrome	Finding site	Entire head	false	Inferred relationship	Some	3
Heide syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Heide syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Heide syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Heide syndrome	Finding site	Bone structure	false	Inferred relationship	Some	3
Heide syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	4
Heide syndrome	Finding site	Structure of visual system (body structure)	false	Inferred relationship	Some	4
Heide syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	5
Heide syndrome	Finding site	Bone structure	false	Inferred relationship	Some	5
Heide syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Heide syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Heide syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Heide syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Heide syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Heide syndrome	Finding site	Entire head	false	Inferred relationship	Some	1
Heide syndrome	Associated morphology	Congenital enlargement	false	Inferred relationship	Some	1
Heide syndrome	Finding site	Structure of visual system (body structure)	true	Inferred relationship	Some	2
Heide syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Heide syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Heide syndrome	Associated morphology	Enlargement (morphologic abnormality)	true	Inferred relationship	Some	3
Heide syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Heide syndrome	Finding site	Bone structure	true	Inferred relationship	Some	1
Heide syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Heide syndrome	Interprets	Head circumference	true	Inferred relationship	Some	4
Heide syndrome	Finding site	Head structure	true	Inferred relationship	Some	3
Heide syndrome	Is a	Congenital macrocephaly (disorder)	true	Inferred relationship	Some
Heide syndrome	Has interpretation	Above reference range	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3305025017	Heide syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3305027013	Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305028015	Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305029011	Osteoporosis and macrocephaly with blindness and joint hyperlaxity syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5401247018	A rare genetic disease characterized by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401248011	A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core