720501007: Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)

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

\Deformity (finding)\Deformity of limb (finding)\Arachnodactyly\Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)
\Deformity (finding)\Congenital deformity\Arachnodactyly\Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)

\Finding of limb structure\Deformity of limb (finding)\Arachnodactyly\Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Arachnodactyly\Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Arachnodactyly\Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)

\Finding of head and neck region\Head finding (finding)\...

\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)

\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)

\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Arachnodactyly\Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Arachnodactyly\Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Arachnodactyly\Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Arachnodactyly\Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arachnodactyly\Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Arachnodactyly\Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Arachnodactyly with abnormal ossification and intellectual disability syndrome (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

3321044011 Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3321045012 Arachnodactyly with abnormal ossification and intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3321046013 Kosztolanyi syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3321047016 A multiple congenital developmental anomalies syndrome with characteristics of arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophthalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

10045931000172111 syndrome d'arachnodactylie, d'ossification anormale et de déficience intellectuelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

10045941000172116 syndrome de Kosztolanyi fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5032101000172117 syndroom van spinnenkopvingers met abnormale botvorming en verstandelijke beperking nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5032111000172119 syndroom van Kosztolanyi nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5032121000172112 syndroom van arachnodactylie met afwijkende ossificatie en verstandelijke beperking nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5032131000172110 Kosztolanyi-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)	Is a	Arachnodactyly	true	Inferred relationship	Some
Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)	Is a	retard mental	false	Inferred relationship	Some
Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	2
Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)	Associated morphology	Abnormally long growth	false	Inferred relationship	Some	2
Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)	Finding site	Digit structure	false	Inferred relationship	Some	2
Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	3
Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)	Finding site	Face structure	false	Inferred relationship	Some	3
Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)	Finding site	Digit structure	true	Inferred relationship	Some	1
Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)	Associated morphology	Abnormally long growth	false	Inferred relationship	Some	1
Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)	Associated morphology	Abnormally long and slender growth	true	Inferred relationship	Some	1
Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	3
Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3
Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	4
Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4

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
3321044011	Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321045012	Arachnodactyly with abnormal ossification and intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321046013	Kosztolanyi syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3321047016	A multiple congenital developmental anomalies syndrome with characteristics of arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophthalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
10045931000172111	syndrome d'arachnodactylie, d'ossification anormale et de déficience intellectuelle	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
10045941000172116	syndrome de Kosztolanyi	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5032101000172117	syndroom van spinnenkopvingers met abnormale botvorming en verstandelijke beperking	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5032111000172119	syndroom van Kosztolanyi	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5032121000172112	syndroom van arachnodactylie met afwijkende ossificatie en verstandelijke beperking	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5032131000172110	Kosztolanyi-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)