720955004: syndroom van brachycefalie, doofheid, cataract en verstandelijke beperking (aandoening)

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

\Deformity (finding)\Deformation of bone\Deformity of skull (disorder)\Brachycephaly\Fine Lubinsky syndrome (disorder)
\Deformity (finding)\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Fine Lubinsky syndrome (disorder)

\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\Fine Lubinsky syndrome (disorder)
\Head finding (finding)\Skull finding\Disorder of skull (disorder)\Deformity of skull (disorder)\Brachycephaly\Fine Lubinsky syndrome (disorder)
\Head finding (finding)\Skull finding\Disorder of skull (disorder)\Congenital anomaly of skull\Congenital abnormality of skull shape\Fine Lubinsky syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of skull (disorder)\Deformity of skull (disorder)\Brachycephaly\Fine Lubinsky syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Congenital abnormality of skull shape\Fine Lubinsky syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Fine Lubinsky syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Fine Lubinsky syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Fine Lubinsky syndrome (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Fine Lubinsky syndrome (disorder)

\Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Fine Lubinsky syndrome (disorder)
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Fine Lubinsky syndrome (disorder)
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Fine Lubinsky syndrome (disorder)

\Functional finding\Finding of sensory function\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Fine Lubinsky syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Fine Lubinsky syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Fine Lubinsky syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Fine Lubinsky syndrome (disorder)

\Musculoskeletal finding\Bone finding\Deformation of bone\Deformity of skull (disorder)\Brachycephaly\Fine Lubinsky syndrome (disorder)
\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull (disorder)\Deformity of skull (disorder)\Brachycephaly\Fine Lubinsky syndrome (disorder)
\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull (disorder)\Congenital anomaly of skull\Congenital abnormality of skull shape\Fine Lubinsky syndrome (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Fine Lubinsky syndrome (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of skull (disorder)\Deformity of skull (disorder)\Brachycephaly\Fine Lubinsky syndrome (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Congenital abnormality of skull shape\Fine Lubinsky syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Fine Lubinsky syndrome (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\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Fine Lubinsky syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\Deformity of skull (disorder)\Brachycephaly\Fine Lubinsky syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Congenital abnormality of skull shape\Fine Lubinsky syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Fine Lubinsky syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Fine Lubinsky syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Fine Lubinsky syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Fine Lubinsky syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Fine Lubinsky syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fine Lubinsky syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Fine Lubinsky syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Fine Lubinsky syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Fine Lubinsky syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Fine Lubinsky syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Fine Lubinsky syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Fine Lubinsky syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Fine Lubinsky syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Fine Lubinsky syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Fine Lubinsky syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Fine Lubinsky syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Fine Lubinsky syndrome (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\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Fine Lubinsky syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\Deformity of skull (disorder)\Brachycephaly\Fine Lubinsky syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Congenital abnormality of skull shape\Fine Lubinsky syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Fine Lubinsky syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Fine Lubinsky syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of skull (disorder)\Deformity of skull (disorder)\Brachycephaly\Fine Lubinsky syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Congenital abnormality of skull shape\Fine Lubinsky 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\Fine Lubinsky 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\Fine Lubinsky syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Fine Lubinsky syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Fine Lubinsky syndrome (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Fine Lubinsky syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Fine Lubinsky syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Fine Lubinsky syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Fine Lubinsky 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\Fine Lubinsky syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Fine Lubinsky syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Fine Lubinsky syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Fine Lubinsky 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

3322633019 Fine Lubinsky syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3322634013 Brachycephaly, deafness, cataract, intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3322635014 Fine Lubinsky syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

6791481000146112 syndroom van brachycefalie, doofheid, cataract en mentale retardatie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6791491000146114 syndroom van Fine-Lubinsky nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6839141000146117 syndroom van Aymé-Gripp nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7494981000146110 syndroom van brachycefalie, doofheid, cataract en verstandelijke beperking (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7571871000146116 syndroom van brachycefalie, doofheid, cataract en verstandelijke beperking nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7571881000146119 syndroom van brachycefalie, doofheid, cataract en verstandelijke handicap nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3322636010 Syndrome with characteristics of psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies. Less than 10 patients have been described in the literature so far. Although the majority of reported cases were sporadic, the syndrome has been reported in one pair of siblings (a brother and sister) with an apparently autosomal recessive inheritance pattern. 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
Fine Lubinsky syndrome (disorder)	Is a	Brachycephaly	true	Inferred relationship	Some
Fine Lubinsky syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Fine Lubinsky syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Fine Lubinsky syndrome (disorder)	Is a	mentale retardatie	false	Inferred relationship	Some
Fine Lubinsky syndrome (disorder)	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Fine Lubinsky syndrome (disorder)	Is a	Skull congenital deformities	false	Inferred relationship	Some
Fine Lubinsky syndrome (disorder)	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Fine Lubinsky syndrome (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Fine Lubinsky syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Fine Lubinsky syndrome (disorder)	Finding site	Ear structure	false	Inferred relationship	Some	3
Fine Lubinsky syndrome (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	4
Fine Lubinsky syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Fine Lubinsky syndrome (disorder)	Finding site	Face structure	false	Inferred relationship	Some	4
Fine Lubinsky syndrome (disorder)	Associated morphology	congenitale deformiteit (afwijkende morfologie)	false	Inferred relationship	Some	5
Fine Lubinsky syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Fine Lubinsky syndrome (disorder)	Finding site	Bone structure of cranium	false	Inferred relationship	Some	5
Fine Lubinsky syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Fine Lubinsky syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Fine Lubinsky syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	1
Fine Lubinsky syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Fine Lubinsky syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Fine Lubinsky syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Fine Lubinsky syndrome (disorder)	Finding site	Bone structure of cranium	true	Inferred relationship	Some	2
Fine Lubinsky syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Fine Lubinsky syndrome (disorder)	Associated morphology	Deformity	true	Inferred relationship	Some	2
Fine Lubinsky syndrome (disorder)	Is a	Congenital deformity	false	Inferred relationship	Some
Fine Lubinsky syndrome (disorder)	Is a	Congenital anomaly of skull	false	Inferred relationship	Some
Fine Lubinsky syndrome (disorder)	Is a	Congenital abnormality of skull shape	true	Inferred relationship	Some
Fine Lubinsky syndrome (disorder)	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Some	3
Fine Lubinsky syndrome (disorder)	Interprets	Hearing	true	Inferred relationship	Some	4
Fine Lubinsky syndrome (disorder)	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Fine Lubinsky syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Fine Lubinsky syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	5
Fine Lubinsky syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	5
Fine Lubinsky syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	6
Fine Lubinsky syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	6
Fine Lubinsky syndrome (disorder)	Is a	Congenital deformity of musculoskeletal system (disorder)	true	Inferred relationship	Some
Fine Lubinsky syndrome (disorder)	Is a	Congenital hearing loss (disorder)	false	Inferred relationship	Some
Fine Lubinsky syndrome (disorder)	Is a	congenitale deformiteit van bewegingsapparaat (aandoening)	false	Inferred relationship	Some

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
3322633019	Fine Lubinsky syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3322634013	Brachycephaly, deafness, cataract, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3322635014	Fine Lubinsky syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6791481000146112	syndroom van brachycefalie, doofheid, cataract en mentale retardatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6791491000146114	syndroom van Fine-Lubinsky	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6839141000146117	syndroom van Aymé-Gripp	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7494981000146110	syndroom van brachycefalie, doofheid, cataract en verstandelijke beperking (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7571871000146116	syndroom van brachycefalie, doofheid, cataract en verstandelijke beperking	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7571881000146119	syndroom van brachycefalie, doofheid, cataract en verstandelijke handicap	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3322636010	Syndrome with characteristics of psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies. Less than 10 patients have been described in the literature so far. Although the majority of reported cases were sporadic, the syndrome has been reported in one pair of siblings (a brother and sister) with an apparently autosomal recessive inheritance pattern.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core