721974000: Lowry MacLean syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Lowry MacLean syndrome

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Lowry MacLean syndrome

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

\Finding of head circumference\Microcephaly\Congenital microcephaly\Lowry MacLean syndrome

\Finding of head region\Disorder of eye region\Disorder of eye\Glaucoma\Congenital glaucoma\Lowry MacLean syndrome
\Finding of head region\Globe finding\Disorder of eye\Glaucoma\Congenital glaucoma\Lowry MacLean syndrome

\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Lowry MacLean syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\Glaucoma\Congenital glaucoma\Lowry MacLean syndrome
\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Lowry MacLean syndrome
\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Lowry MacLean syndrome

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

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

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Congenital microcephaly\Lowry MacLean syndrome

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

\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Lowry MacLean syndrome
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Lowry MacLean syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Lowry MacLean syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Lowry MacLean syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Lowry MacLean syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Lowry MacLean syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Lowry MacLean syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Lowry MacLean syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Glaucoma\Congenital glaucoma\Lowry MacLean syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Lowry MacLean syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Lowry MacLean syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Lowry MacLean syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Lowry MacLean syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Lowry MacLean syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Glaucoma\Congenital glaucoma\Lowry MacLean syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Lowry MacLean syndrome
\Disease\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Lowry MacLean syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Lowry MacLean syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Lowry MacLean syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Lowry MacLean syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Lowry MacLean syndrome
\Disease\Congenital disease\Congenital glaucoma\Lowry MacLean syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Lowry MacLean syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Lowry MacLean syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Lowry MacLean syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Lowry MacLean syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Lowry MacLean syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Lowry MacLean syndrome
\Disease\Developmental disorder\Congenital glaucoma\Lowry MacLean syndrome

Status: current, Primitive. 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 Case sensitive SNOMED CT core

3327897012 Lowry MacLean syndrome en Synonym Active Case sensitive SNOMED CT core

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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lowry MacLean syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Lowry MacLean syndrome	Finding site	Structure of viscus	true	Inferred relationship	Some	1
Lowry MacLean syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Lowry MacLean syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Lowry MacLean syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Lowry MacLean syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Lowry MacLean syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Lowry MacLean syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Lowry MacLean syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Lowry MacLean syndrome	Finding site	Eye structure	true	Inferred relationship	Some	3
Lowry MacLean syndrome	Associated morphology	Congenital premature fusion	true	Inferred relationship	Some	2
Lowry MacLean syndrome	Finding site	Brain structure	false	Inferred relationship	Some	4
Lowry MacLean syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Some	4
Lowry MacLean syndrome	Finding site	Joint structure of suture of skull	true	Inferred relationship	Some	2
Lowry MacLean syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Lowry MacLean syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Lowry MacLean syndrome	Finding site	Structure of head	true	Inferred relationship	Some	4
Lowry MacLean syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	5
Lowry MacLean syndrome	Interprets	Birth head circumference	true	Inferred relationship	Some	5
Lowry MacLean syndrome	Is a	Congenital microcephaly	true	Inferred relationship	Some
Lowry MacLean syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	6
Lowry MacLean syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	6
Lowry MacLean syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	7
Lowry MacLean syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	7
Lowry MacLean syndrome	Is a	Microcephalus	false	Inferred relationship	Some
Lowry MacLean syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Lowry MacLean syndrome	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Lowry MacLean syndrome	Is a	Craniosynostosis syndrome	true	Inferred relationship	Some
Lowry MacLean syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Lowry MacLean syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Lowry MacLean syndrome	Is a	Congenital glaucoma	true	Inferred relationship	Some
Lowry MacLean syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Lowry MacLean syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Lowry MacLean syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Lowry MacLean syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Lowry MacLean syndrome	Is a	Viscus structure finding	true	Inferred relationship	Some
Lowry MacLean syndrome	Finding site	Eye structure	false	Inferred relationship	Some
Lowry MacLean syndrome	Finding site	Bone structure of cranium	false	Inferred relationship	Some
Lowry MacLean syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Lowry MacLean syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Lowry MacLean syndrome	Occurrence	Congenital	false	Inferred relationship	Some	7
Lowry MacLean syndrome	Associated morphology	Congenital smallness	false	Inferred relationship	Some	5
Lowry MacLean syndrome	Finding site	Brain structure	false	Inferred relationship	Some	5
Lowry MacLean syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	6
Lowry MacLean syndrome	Finding site	Structure of viscus	false	Inferred relationship	Some	6
Lowry MacLean syndrome	Associated morphology	Congenital premature fusion	false	Inferred relationship	Some	7
Lowry MacLean syndrome	Finding site	Joint structure of suture of skull	false	Inferred relationship	Some	7
Lowry MacLean 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
3327896015	Lowry MacLean syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3327897012	Lowry MacLean syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
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	Case sensitive	SNOMED CT core