720955004: Fine Lubinsky syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Congenital deformity\Fine Lubinsky syndrome
\Deformity\Deformity of bone\Brachycephaly\Fine Lubinsky syndrome

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Fine Lubinsky syndrome

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

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Fine Lubinsky syndrome

\Skull finding\Disorder of skull\...

\Congenital anomaly of skull\Congenital abnormality of skull shape\Fine Lubinsky syndrome

\Brachycephaly\Fine Lubinsky syndrome

\Disorder of head\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\Fine Lubinsky syndrome
\Disorder of head\Disorder of skull\Brachycephaly\Fine Lubinsky syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Fine Lubinsky syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Fine Lubinsky syndrome
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Fine Lubinsky syndrome

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

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

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

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

Status: current, Primitive. 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 Case sensitive SNOMED CT core

3322634013 Brachycephaly, deafness, cataract, intellectual disability syndrome en Synonym Active Case insensitive SNOMED CT core

3322635014 Fine Lubinsky syndrome en Synonym Active Case sensitive SNOMED CT core

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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Fine Lubinsky syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Fine Lubinsky syndrome	Finding site	Face structure	true	Inferred relationship	Some	1
Fine Lubinsky syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Fine Lubinsky syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Fine Lubinsky syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Fine Lubinsky syndrome	Finding site	Bone structure of cranium	true	Inferred relationship	Some	2
Fine Lubinsky syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Fine Lubinsky syndrome	Associated morphology	Deformity	true	Inferred relationship	Some	2
Fine Lubinsky syndrome	Is a	Congenital deformity	true	Inferred relationship	Some
Fine Lubinsky syndrome	Is a	Congenital anomaly of skull	false	Inferred relationship	Some
Fine Lubinsky syndrome	Is a	Congenital abnormality of skull shape	true	Inferred relationship	Some
Fine Lubinsky syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Some	3
Fine Lubinsky syndrome	Interprets	Hearing	true	Inferred relationship	Some	4
Fine Lubinsky syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Fine Lubinsky syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Fine Lubinsky syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	5
Fine Lubinsky syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
Fine Lubinsky syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	6
Fine Lubinsky syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	6
Fine Lubinsky syndrome	Is a	Brachycephaly	true	Inferred relationship	Some
Fine Lubinsky syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Fine Lubinsky syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Fine Lubinsky syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Fine Lubinsky syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Fine Lubinsky syndrome	Is a	Skull congenital deformities	false	Inferred relationship	Some
Fine Lubinsky syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Fine Lubinsky syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Fine Lubinsky syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Fine Lubinsky syndrome	Finding site	Ear structure	false	Inferred relationship	Some	3
Fine Lubinsky syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
Fine Lubinsky syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Fine Lubinsky syndrome	Finding site	Face structure	false	Inferred relationship	Some	4
Fine Lubinsky syndrome	Associated morphology	Congenital deformity	false	Inferred relationship	Some	5
Fine Lubinsky syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Fine Lubinsky syndrome	Finding site	Bone structure of cranium	false	Inferred relationship	Some	5
Fine Lubinsky syndrome	Is a	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3322633019	Fine Lubinsky syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3322634013	Brachycephaly, deafness, cataract, intellectual disability syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3322635014	Fine Lubinsky syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
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	Case sensitive	SNOMED CT core