1351836007: Alkuraya Kucinskas syndrome (disorder)

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

\Deformity (finding)\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Alkuraya Kucinskas syndrome
\Deformity (finding)\Congenital deformity\Arthrogryposis\Arthrogryposis multiplex congenita\Alkuraya Kucinskas syndrome
\Deformity (finding)\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Alkuraya Kucinskas syndrome
\Deformity (finding)\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Alkuraya Kucinskas syndrome
\Deformity (finding)\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Alkuraya Kucinskas syndrome
\Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Alkuraya Kucinskas syndrome
\Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Alkuraya Kucinskas syndrome

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Alkuraya Kucinskas syndrome
\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\Alkuraya Kucinskas syndrome
\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\Multiple malformation syndrome with facial-limb defects as major feature\Alkuraya Kucinskas syndrome
\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\Multiple malformation syndrome with facial-limb defects as major feature\Alkuraya Kucinskas syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Alkuraya Kucinskas syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Alkuraya Kucinskas syndrome

\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Alkuraya Kucinskas syndrome

\Finding of movement (finding)\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Alkuraya Kucinskas syndrome
\Finding of movement (finding)\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Alkuraya Kucinskas syndrome
\Finding of movement (finding)\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Alkuraya Kucinskas syndrome
\Finding of movement (finding)\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Alkuraya Kucinskas syndrome

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Alkuraya Kucinskas syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Alkuraya Kucinskas syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Alkuraya Kucinskas syndrome

\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Alkuraya Kucinskas syndrome
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Alkuraya Kucinskas syndrome
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint\Alkuraya Kucinskas syndrome
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Alkuraya Kucinskas syndrome
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Alkuraya Kucinskas syndrome
\Musculoskeletal finding\Joint finding\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Alkuraya Kucinskas syndrome
\Musculoskeletal finding\Joint finding\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Alkuraya Kucinskas syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Alkuraya Kucinskas syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Alkuraya Kucinskas syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Alkuraya Kucinskas syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Alkuraya Kucinskas syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Alkuraya Kucinskas syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Alkuraya Kucinskas syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Alkuraya Kucinskas syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Alkuraya Kucinskas syndrome

\Disease\Disorder of joint region\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Alkuraya Kucinskas syndrome
\Disease\Disorder of joint region\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Alkuraya Kucinskas syndrome
\Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Alkuraya Kucinskas syndrome
\Disease\Disorder of joint region\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Alkuraya Kucinskas syndrome
\Disease\Disorder of joint region\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Alkuraya Kucinskas syndrome
\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Alkuraya Kucinskas syndrome
\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Alkuraya Kucinskas syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Alkuraya Kucinskas syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Alkuraya Kucinskas syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\Alkuraya Kucinskas syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Alkuraya Kucinskas syndrome
\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\Multiple malformation syndrome with facial-limb defects as major feature\Alkuraya Kucinskas syndrome
\Disease\Disorder of foetus and/or newborn\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\Alkuraya Kucinskas syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Alkuraya Kucinskas syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Arthrogryposis\Arthrogryposis multiplex congenita\Alkuraya Kucinskas syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Alkuraya Kucinskas syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Alkuraya Kucinskas syndrome
\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\Multiple malformation syndrome with facial-limb defects as major feature\Alkuraya Kucinskas syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Alkuraya Kucinskas syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Alkuraya Kucinskas syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Alkuraya Kucinskas syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Alkuraya Kucinskas syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Alkuraya Kucinskas syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Alkuraya Kucinskas syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Alkuraya Kucinskas syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Alkuraya Kucinskas syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Alkuraya Kucinskas syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Alkuraya Kucinskas syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Alkuraya Kucinskas syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Alkuraya Kucinskas syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Alkuraya Kucinskas syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Alkuraya Kucinskas syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Alkuraya Kucinskas syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Alkuraya Kucinskas syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Alkuraya Kucinskas syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Alkuraya Kucinskas syndrome
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Alkuraya Kucinskas syndrome
\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\Alkuraya Kucinskas syndrome
\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\Alkuraya Kucinskas syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Alkuraya Kucinskas syndrome
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Alkuraya Kucinskas syndrome
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Alkuraya Kucinskas syndrome
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Alkuraya Kucinskas syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Alkuraya Kucinskas syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Inherited arthrogryposis\Alkuraya Kucinskas syndrome
\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\Alkuraya Kucinskas syndrome
\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\Alkuraya Kucinskas syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Alkuraya Kucinskas syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Arthrogryposis multiplex congenita\Alkuraya Kucinskas syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Alkuraya Kucinskas syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Alkuraya Kucinskas syndrome
\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\Alkuraya Kucinskas syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Alkuraya Kucinskas syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Alkuraya Kucinskas syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Alkuraya Kucinskas syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Alkuraya Kucinskas syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Dec 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5415403010 Alkuraya Kucinskas syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5415404016 KIAA1109-related early lethal congenital brain malformations, arthrogryposis syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5415405015 Alkuraya Kucinskas syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

5415406019 A rare multiple congenital anomalies/dysmorphic syndrome characterised by severe brain malformations associated with cerebral parenchymal underdevelopment, arthrogryposis and club feet due to mutations in KIAA1109 gene. Majority of the cases are early lethal. Milder cases may present with severe global developmental delay, intellectual disability, microcephaly, hydrocephaly, heart defects, renal problems, severe muscle hypotonia causing incapacity to stand without a support, epilepsy, syndactyly and variable dysmorphic facial features (including hypotelorism, hypertelorism, small eyes, low-set and posteriorly rotated ears, short nose, flattened nasal bridge, anteverted nares, retrognathia). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5415407011 A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe brain malformations associated with cerebral parenchymal underdevelopment, arthrogryposis and club feet due to mutations in KIAA1109 gene. Majority of the cases are early lethal. Milder cases may present with severe global developmental delay, intellectual disability, microcephaly, hydrocephaly, heart defects, renal problems, severe muscle hypotonia causing incapacity to stand without a support, epilepsy, syndactyly and variable dysmorphic facial features (including hypotelorism, hypertelorism, small eyes, low-set and posteriorly rotated ears, short nose, flattened nasal bridge, anteverted nares, retrognathia). 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
Alkuraya Kucinskas syndrome	Is a	Arthrogryposis multiplex congenita	true	Inferred relationship	Some
Alkuraya Kucinskas syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Alkuraya Kucinskas syndrome	Is a	Inherited arthrogryposis	true	Inferred relationship	Some
Alkuraya Kucinskas syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Alkuraya Kucinskas syndrome	Is a	Congenital anomaly of brain	true	Inferred relationship	Some
Alkuraya Kucinskas syndrome	Is a	Neurodevelopmental disorder	true	Inferred relationship	Some
Alkuraya Kucinskas syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Alkuraya Kucinskas syndrome	Interprets	Range of joint movement	true	Inferred relationship	Some	5
Alkuraya Kucinskas syndrome	Has interpretation	Decreased	true	Inferred relationship	Some	5
Alkuraya Kucinskas syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Alkuraya Kucinskas syndrome	Finding site	Structure of parenchyma of brain	true	Inferred relationship	Some	1
Alkuraya Kucinskas syndrome	Associated morphology	Maturation defect	true	Inferred relationship	Some	1
Alkuraya Kucinskas syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Alkuraya Kucinskas syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Alkuraya Kucinskas syndrome	Finding site	Limb structure	true	Inferred relationship	Some	2
Alkuraya Kucinskas syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Alkuraya Kucinskas syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Alkuraya Kucinskas syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Alkuraya Kucinskas syndrome	Finding site	Face structure	true	Inferred relationship	Some	3
Alkuraya Kucinskas syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Alkuraya Kucinskas syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Alkuraya Kucinskas syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Alkuraya Kucinskas syndrome	Associated morphology	Contracture	true	Inferred relationship	Some	4
Alkuraya Kucinskas syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Alkuraya Kucinskas syndrome	Is a	Congenital deformity of musculoskeletal system (disorder)	true	Inferred relationship	Some
Alkuraya Kucinskas syndrome	Is a	Congenital anomaly of joint	true	Inferred relationship	Some
Alkuraya Kucinskas syndrome	Finding site	Joint structure of multiple body sites (body structure)	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5415403010	Alkuraya Kucinskas syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5415404016	KIAA1109-related early lethal congenital brain malformations, arthrogryposis syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5415405015	Alkuraya Kucinskas syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5415406019	A rare multiple congenital anomalies/dysmorphic syndrome characterised by severe brain malformations associated with cerebral parenchymal underdevelopment, arthrogryposis and club feet due to mutations in KIAA1109 gene. Majority of the cases are early lethal. Milder cases may present with severe global developmental delay, intellectual disability, microcephaly, hydrocephaly, heart defects, renal problems, severe muscle hypotonia causing incapacity to stand without a support, epilepsy, syndactyly and variable dysmorphic facial features (including hypotelorism, hypertelorism, small eyes, low-set and posteriorly rotated ears, short nose, flattened nasal bridge, anteverted nares, retrognathia).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5415407011	A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe brain malformations associated with cerebral parenchymal underdevelopment, arthrogryposis and club feet due to mutations in KIAA1109 gene. Majority of the cases are early lethal. Milder cases may present with severe global developmental delay, intellectual disability, microcephaly, hydrocephaly, heart defects, renal problems, severe muscle hypotonia causing incapacity to stand without a support, epilepsy, syndactyly and variable dysmorphic facial features (including hypotelorism, hypertelorism, small eyes, low-set and posteriorly rotated ears, short nose, flattened nasal bridge, anteverted nares, retrognathia).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core