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

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Macrocephaly\Congenital macrocephaly\Heide syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Heide syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Heide syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Heide syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Heide syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Heide syndrome
\Musculoskeletal finding\Musculoskeletal disorder\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\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\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\Heide syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Heide syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Heide syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Heide syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Heide syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Heide syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Heide syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital macrocephaly\Heide syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Heide syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital macrocephaly\Heide syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Heide syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Heide syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Heide syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Heide syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Heide syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital macrocephaly\Heide syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Heide syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Heide syndrome

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3305025017 Heide syndrome en Synonym Active Case sensitive SNOMED CT core

3305027013 Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3305028015 Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome en Synonym Active Case insensitive SNOMED CT core

3305029011 Osteoporosis and macrocephaly with blindness and joint hyperlaxity syndrome en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Heide syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Heide syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Heide syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Heide syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Heide syndrome	Pathological process	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	true	Inferred relationship	Some	2
Heide syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Heide syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Heide syndrome	Associated morphology	Enlargement	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	Structure of head	true	Inferred relationship	Some	3
Heide syndrome	Is a	Congenital macrocephaly	true	Inferred relationship	Some
Heide syndrome	Has interpretation	Above reference range	true	Inferred relationship	Some	4
Heide syndrome	Is a	Macrocephaly	false	Inferred relationship	Some
Heide syndrome	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Some
Heide syndrome	Is a	Congenital anomaly of visual system	true	Inferred relationship	Some
Heide syndrome	Is a	Inherited disorder of connective tissue	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	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 abnormality	false	Inferred relationship	Some	4
Heide syndrome	Finding site	Structure of visual system	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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3305025017	Heide syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3305027013	Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3305028015	Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3305029011	Osteoporosis and macrocephaly with blindness and joint hyperlaxity syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core