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 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\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Heide syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly (disorder)\Heide syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Heide syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\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

3305026016 This syndrome has characteristics of osteoporosis, macrocephalus, brachytelephalangy, and hyperextensibility of the joints. Congenital amaurosis and intellectual deficit have also been reported. This syndrome has been described in three members of one family. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

14511321000172118 syndrome de Heide fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

14511331000172115 syndrome d'ostéoporose et macrocéphalie avec cécité et hyperlaxité articulaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4708851000172112 syndroom van osteoporose, macrocefalie, blindheid en hypermobiliteit van gewricht nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4708861000172114 syndroom van Heide nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Heide syndrome	Is a	macrocéphalie	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

Description inactivation indicator reference set

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
3305026016	This syndrome has characteristics of osteoporosis, macrocephalus, brachytelephalangy, and hyperextensibility of the joints. Congenital amaurosis and intellectual deficit have also been reported. This syndrome has been described in three members of one family.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
14511321000172118	syndrome de Heide	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
14511331000172115	syndrome d'ostéoporose et macrocéphalie avec cécité et hyperlaxité articulaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4708851000172112	syndroom van osteoporose, macrocefalie, blindheid en hypermobiliteit van gewricht	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4708861000172114	syndroom van Heide	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)