719688002: multipele epifysaire dysplasie Al-Gazali-type (aandoening)

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

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of epiphysis\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (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\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (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\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of epiphysis\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Multiple epiphyseal dysplasia Al-Gazali type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (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\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (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\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of epiphysis\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Al-Gazali type (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

3317493019 Multiple epiphyseal dysplasia Al-Gazali type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3317494013 Multiple epiphyseal dysplasia Al-Gazali type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3317495014 Multiple epiphyseal dysplasia and macrocephaly with distinctive facies syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6963201000146112 multipele epifysaire dysplasie type Al-Gazali (aandoening) nl Fully specified name Inactive Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6963211000146114 meervoudige epifysaire dysplasie type Al-Gazali nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6963221000146116 multipele epifysaire dysplasie type Al-Gazali nl Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7034521000146119 syndroom van meervoudige epifysaire dysplasie, macrocefalie en typisch aangezicht nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12689571000146118 multipele epifysaire dysplasie Al-Gazali-type (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12743991000146113 multipele epifysaire dysplasie Al-Gazali-type nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3317496010 A skeletal dysplasia with characteristics of multiple epiphyseal dysplasia, macrocephaly and facial dysmorphism. It has been described in 4 children from one Omani family. Dysmorphic features consist of macrocephaly with frontal bossing, hypertelorism, flat malar region, low-set ears and short neck. The disease gene has been mapped to the telomeric region of the long arm of chromosome 15. The condition is transmitted in an autosomal recessive manner. 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
Multiple epiphyseal dysplasia Al-Gazali type (disorder)	Is a	Multiple epiphyseal dysplasia	true	Inferred relationship	Some
Multiple epiphyseal dysplasia Al-Gazali type (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Multiple epiphyseal dysplasia Al-Gazali type (disorder)	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	2
Multiple epiphyseal dysplasia Al-Gazali type (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Multiple epiphyseal dysplasia Al-Gazali type (disorder)	Finding site	Structure of epiphysis	false	Inferred relationship	Some	2
Multiple epiphyseal dysplasia Al-Gazali type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Multiple epiphyseal dysplasia Al-Gazali type (disorder)	Finding site	Structure of epiphysis	true	Inferred relationship	Some	1
Multiple epiphyseal dysplasia Al-Gazali type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Multiple epiphyseal dysplasia Al-Gazali type (disorder)	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Multiple epiphyseal dysplasia Al-Gazali type (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Multiple epiphyseal dysplasia Al-Gazali type (disorder)	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2
Multiple epiphyseal dysplasia Al-Gazali type (disorder)	Interprets	Height / growth measure	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3317493019	Multiple epiphyseal dysplasia Al-Gazali type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3317494013	Multiple epiphyseal dysplasia Al-Gazali type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3317495014	Multiple epiphyseal dysplasia and macrocephaly with distinctive facies syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6963201000146112	multipele epifysaire dysplasie type Al-Gazali (aandoening)	nl	Fully specified name	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6963211000146114	meervoudige epifysaire dysplasie type Al-Gazali	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6963221000146116	multipele epifysaire dysplasie type Al-Gazali	nl	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7034521000146119	syndroom van meervoudige epifysaire dysplasie, macrocefalie en typisch aangezicht	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12689571000146118	multipele epifysaire dysplasie Al-Gazali-type (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12743991000146113	multipele epifysaire dysplasie Al-Gazali-type	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3317496010	A skeletal dysplasia with characteristics of multiple epiphyseal dysplasia, macrocephaly and facial dysmorphism. It has been described in 4 children from one Omani family. Dysmorphic features consist of macrocephaly with frontal bossing, hypertelorism, flat malar region, low-set ears and short neck. The disease gene has been mapped to the telomeric region of the long arm of chromosome 15. The condition is transmitted in an autosomal recessive manner.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core