721974000: Lowry-MacLean-syndroom (aandoening)

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

\Viscus structure finding (finding)\Lowry MacLean syndrome (disorder)

\Head finding (finding)\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Lowry MacLean syndrome (disorder)
\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Glaucoma\Congenital glaucoma\Lowry MacLean syndrome (disorder)
\Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Glaucoma\Congenital glaucoma\Lowry MacLean syndrome (disorder)
\Head finding (finding)\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Lowry MacLean syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Glaucoma\Congenital glaucoma\Lowry MacLean syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Lowry MacLean syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Lowry MacLean syndrome (disorder)

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

\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Lowry MacLean syndrome (disorder)

\Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Glaucoma\Congenital glaucoma\Lowry MacLean syndrome (disorder)
\Eye / vision finding\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Glaucoma\Congenital glaucoma\Lowry MacLean syndrome (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Glaucoma\Congenital glaucoma\Lowry MacLean syndrome (disorder)
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Lowry MacLean syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Lowry MacLean syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Lowry MacLean syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Lowry MacLean syndrome (disorder)

\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Lowry MacLean syndrome (disorder)
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Lowry MacLean syndrome (disorder)
\Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Lowry MacLean syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Lowry MacLean syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Lowry MacLean syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Lowry MacLean syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Lowry MacLean syndrome (disorder)

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Glaucoma\Congenital glaucoma\Lowry MacLean syndrome (disorder)
\Disease\Disorder of joint region\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Lowry MacLean syndrome (disorder)
\Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Lowry MacLean syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Lowry MacLean syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Lowry MacLean syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Lowry MacLean syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Lowry MacLean syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Lowry MacLean syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Lowry MacLean syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Lowry MacLean syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Lowry MacLean syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital glaucoma\Lowry MacLean syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Lowry MacLean syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Lowry MacLean syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Glaucoma\Congenital glaucoma\Lowry MacLean syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Lowry MacLean syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Lowry MacLean syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Lowry MacLean syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Lowry MacLean syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Lowry MacLean syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Glaucoma\Congenital glaucoma\Lowry MacLean syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Lowry MacLean syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Lowry MacLean syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Lowry MacLean syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Lowry MacLean syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Lowry MacLean syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Lowry MacLean syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Lowry MacLean syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Lowry MacLean syndrome (disorder)
\Disease\Developmental disorder\Congenital glaucoma\Lowry MacLean 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

3327896015 Lowry MacLean syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3327897012 Lowry MacLean syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

6796531000146117 syndroom van Lowry-MacLean nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

10669721000146119 Lowry-MacLean-syndroom (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

10669731000146117 Lowry-MacLean-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3327898019 A very rare syndrome with characteristics of microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations. Only three cases have been reported in the literature in three unrelated families. Dysmorphic features include trigonocephaly, exotropia, cleft palate, beaked nose and low-set ears. All the affected patients have associated congenital visceral malformations including congenital heart defects, diaphragmatic hernia, genital or cerebral abnormalities. The demonstration of congenital glaucoma, hallmark of the syndrome, in the father of an affected patient, supports autosomal dominant inheritance. Prognosis is poor. 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
Lowry MacLean syndrome (disorder)	Is a	microcefalie	false	Inferred relationship	Some
Lowry MacLean syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Lowry MacLean syndrome (disorder)	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Lowry MacLean syndrome (disorder)	Is a	Craniosynostosis syndrome	true	Inferred relationship	Some
Lowry MacLean syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Lowry MacLean syndrome (disorder)	Is a	mentale retardatie	false	Inferred relationship	Some
Lowry MacLean syndrome (disorder)	Is a	Congenital glaucoma	true	Inferred relationship	Some
Lowry MacLean syndrome (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Lowry MacLean syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Lowry MacLean syndrome (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Lowry MacLean syndrome (disorder)	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Lowry MacLean syndrome (disorder)	Is a	Viscus structure finding (finding)	true	Inferred relationship	Some
Lowry MacLean syndrome (disorder)	Finding site	Eye structure	false	Inferred relationship	Some
Lowry MacLean syndrome (disorder)	Finding site	Bone structure of cranium	false	Inferred relationship	Some
Lowry MacLean syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Lowry MacLean syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	6
Lowry MacLean syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	7
Lowry MacLean syndrome (disorder)	Associated morphology	congenitale kleinheid	false	Inferred relationship	Some	5
Lowry MacLean syndrome (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	5
Lowry MacLean syndrome (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	6
Lowry MacLean syndrome (disorder)	Finding site	Structure of viscus	false	Inferred relationship	Some	6
Lowry MacLean syndrome (disorder)	Associated morphology	congenitale premature fusie	false	Inferred relationship	Some	7
Lowry MacLean syndrome (disorder)	Finding site	Joint structure of suture of skull	false	Inferred relationship	Some	7
Lowry MacLean syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Lowry MacLean syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Lowry MacLean syndrome (disorder)	Finding site	Structure of viscus	true	Inferred relationship	Some	1
Lowry MacLean syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Lowry MacLean syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	4
Lowry MacLean syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Lowry MacLean syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Lowry MacLean syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Lowry MacLean syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Lowry MacLean syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Lowry MacLean syndrome (disorder)	Finding site	Eye structure	true	Inferred relationship	Some	3
Lowry MacLean syndrome (disorder)	Associated morphology	congenitale premature fusie	false	Inferred relationship	Some	2
Lowry MacLean syndrome (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	4
Lowry MacLean syndrome (disorder)	Associated morphology	congenitale kleinheid	false	Inferred relationship	Some	4
Lowry MacLean syndrome (disorder)	Finding site	Joint structure of suture of skull	true	Inferred relationship	Some	2
Lowry MacLean syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Lowry MacLean syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Lowry MacLean syndrome (disorder)	Finding site	Head structure	true	Inferred relationship	Some	4
Lowry MacLean syndrome (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	5
Lowry MacLean syndrome (disorder)	Interprets	Birth head circumference	true	Inferred relationship	Some	5
Lowry MacLean syndrome (disorder)	Is a	Congenital microcephaly (disorder)	true	Inferred relationship	Some
Lowry MacLean syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	6
Lowry MacLean syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	6
Lowry MacLean syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	7
Lowry MacLean syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	7
Lowry MacLean syndrome (disorder)	Associated morphology	Premature fusion	true	Inferred relationship	Some	2
Lowry MacLean syndrome (disorder)	Associated morphology	Abnormal smallness (morphologic abnormality)	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
3327896015	Lowry MacLean syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3327897012	Lowry MacLean syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6796531000146117	syndroom van Lowry-MacLean	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10669721000146119	Lowry-MacLean-syndroom (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10669731000146117	Lowry-MacLean-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3327898019	A very rare syndrome with characteristics of microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations. Only three cases have been reported in the literature in three unrelated families. Dysmorphic features include trigonocephaly, exotropia, cleft palate, beaked nose and low-set ears. All the affected patients have associated congenital visceral malformations including congenital heart defects, diaphragmatic hernia, genital or cerebral abnormalities. The demonstration of congenital glaucoma, hallmark of the syndrome, in the father of an affected patient, supports autosomal dominant inheritance. Prognosis is poor.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core