1179283004: Metopic ridging, ptosis, facial dysmorphism syndrome (disorder)

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

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Metopic ridging, ptosis, facial dysmorphism syndrome

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

\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Metopic ridging, ptosis, facial dysmorphism syndrome
\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Metopic ridging, ptosis, facial dysmorphism syndrome
\Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis (disorder)\Metopic ridging, ptosis, facial dysmorphism syndrome
\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Metopic ridging, ptosis, facial dysmorphism syndrome
\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis (disorder)\Metopic ridging, ptosis, facial dysmorphism syndrome
\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Metopic ridging, ptosis, facial dysmorphism syndrome
\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\Metopic ridging, ptosis, facial dysmorphism syndrome
\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Metopic ridging, ptosis, facial dysmorphism syndrome
\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis (disorder)\Metopic ridging, ptosis, facial dysmorphism syndrome

\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Metopic ridging, ptosis, facial dysmorphism syndrome

\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Metopic ridging, ptosis, facial dysmorphism syndrome
\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Metopic ridging, ptosis, facial dysmorphism syndrome
\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis (disorder)\Metopic ridging, ptosis, facial dysmorphism syndrome
\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Metopic ridging, ptosis, facial dysmorphism syndrome
\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Metopic ridging, ptosis, facial dysmorphism syndrome
\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Metopic ridging, ptosis, facial dysmorphism syndrome
\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis (disorder)\Metopic ridging, ptosis, facial dysmorphism syndrome
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Metopic ridging, ptosis, facial dysmorphism syndrome
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Metopic ridging, ptosis, facial dysmorphism syndrome
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Metopic ridging, ptosis, facial dysmorphism syndrome
\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Metopic ridging, ptosis, facial dysmorphism syndrome

\Eye / vision finding\Eyelid finding\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Metopic ridging, ptosis, facial dysmorphism syndrome
\Eye / vision finding\Eyelid finding\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis (disorder)\Metopic ridging, ptosis, facial dysmorphism syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Metopic ridging, ptosis, facial dysmorphism syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Metopic ridging, ptosis, facial dysmorphism syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis (disorder)\Metopic ridging, ptosis, facial dysmorphism syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Metopic ridging, ptosis, facial dysmorphism syndrome

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Metopic ridging, ptosis, facial dysmorphism syndrome
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Metopic ridging, ptosis, facial dysmorphism syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Metopic ridging, ptosis, facial dysmorphism syndrome

\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Metopic ridging, ptosis, facial dysmorphism syndrome
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Metopic ridging, ptosis, facial dysmorphism syndrome
\Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Metopic ridging, ptosis, facial dysmorphism syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Metopic ridging, ptosis, facial dysmorphism syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Metopic ridging, ptosis, facial dysmorphism syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Metopic ridging, ptosis, facial dysmorphism syndrome

\Disease\Disorder of joint region\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Metopic ridging, ptosis, facial dysmorphism syndrome
\Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Metopic ridging, ptosis, facial dysmorphism syndrome
\Disease\Genetic disease\Metopic ridging, ptosis, facial dysmorphism 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\Metopic ridging, ptosis, facial dysmorphism syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Metopic ridging, ptosis, facial dysmorphism syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Metopic ridging, ptosis, facial dysmorphism 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\Metopic ridging, ptosis, facial dysmorphism syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Metopic ridging, ptosis, facial dysmorphism syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Metopic ridging, ptosis, facial dysmorphism syndrome
\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\Metopic ridging, ptosis, facial dysmorphism syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Metopic ridging, ptosis, facial dysmorphism syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Metopic ridging, ptosis, facial dysmorphism syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis (disorder)\Metopic ridging, ptosis, facial dysmorphism syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Metopic ridging, ptosis, facial dysmorphism syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Metopic ridging, ptosis, facial dysmorphism syndrome
\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\Metopic ridging, ptosis, facial dysmorphism syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Metopic ridging, ptosis, facial dysmorphism syndrome
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Metopic ridging, ptosis, facial dysmorphism syndrome
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Metopic ridging, ptosis, facial dysmorphism syndrome
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis (disorder)\Metopic ridging, ptosis, facial dysmorphism syndrome
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Metopic ridging, ptosis, facial dysmorphism syndrome
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Metopic ridging, ptosis, facial dysmorphism syndrome
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Metopic ridging, ptosis, facial dysmorphism syndrome
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Ptosis of eyelid\Congenital ptosis (disorder)\Metopic ridging, ptosis, facial dysmorphism syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Metopic ridging, ptosis, facial dysmorphism syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Metopic ridging, ptosis, facial dysmorphism syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Metopic ridging, ptosis, facial dysmorphism syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Metopic ridging, ptosis, facial dysmorphism syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Metopic ridging, ptosis, facial dysmorphism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Metopic ridging, ptosis, facial dysmorphism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Metopic ridging, ptosis, facial dysmorphism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Metopic ridging, ptosis, facial dysmorphism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Metopic ridging, ptosis, facial dysmorphism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Congenital ptosis (disorder)\Metopic ridging, ptosis, facial dysmorphism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Metopic ridging, ptosis, facial dysmorphism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Metopic ridging, ptosis, facial dysmorphism syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4650470012 Metopic ridging, ptosis, facial dysmorphism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4650471011 Metopic ridging, ptosis, facial dysmorphism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4650472016 A rare genetic multiple congenital anomalies/dysmorphic syndrome with variable intellectual disability and characteristics of abnormal head shape/metopic ridging and facial dysmorphism which may include arched eyebrows, ptosis, downslanting palpebral fissures, epicanthal folds and short upturned nose. Many patients present variable global developmental delay and/or autism spectrum disorder. Additional reported features are cardiac, skeletal or urogenital anomalies. Brain imaging may show agenesis of the corpus callosum. 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
Metopic ridging, ptosis, facial dysmorphism syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Metopic ridging, ptosis, facial dysmorphism syndrome	Is a	Congenital ptosis (disorder)	true	Inferred relationship	Some
Metopic ridging, ptosis, facial dysmorphism syndrome	Is a	Craniosynostosis syndrome	true	Inferred relationship	Some
Metopic ridging, ptosis, facial dysmorphism syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Metopic ridging, ptosis, facial dysmorphism syndrome	Is a	Genetic disease	true	Inferred relationship	Some
Metopic ridging, ptosis, facial dysmorphism syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Metopic ridging, ptosis, facial dysmorphism syndrome	Finding site	Upper eyelid structure	true	Inferred relationship	Some	1
Metopic ridging, ptosis, facial dysmorphism syndrome	Associated morphology	Prolapse (morphologic abnormality)	true	Inferred relationship	Some	1
Metopic ridging, ptosis, facial dysmorphism syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Metopic ridging, ptosis, facial dysmorphism syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Metopic ridging, ptosis, facial dysmorphism syndrome	Finding site	Joint structure of suture of skull	true	Inferred relationship	Some	2
Metopic ridging, ptosis, facial dysmorphism syndrome	Associated morphology	Congenital premature fusion	false	Inferred relationship	Some	2
Metopic ridging, ptosis, facial dysmorphism syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Metopic ridging, ptosis, facial dysmorphism syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	3
Metopic ridging, ptosis, facial dysmorphism syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
Metopic ridging, ptosis, facial dysmorphism syndrome	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	4
Metopic ridging, ptosis, facial dysmorphism syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Metopic ridging, ptosis, facial dysmorphism syndrome	Associated morphology	Premature fusion	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4650470012	Metopic ridging, ptosis, facial dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4650471011	Metopic ridging, ptosis, facial dysmorphism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4650472016	A rare genetic multiple congenital anomalies/dysmorphic syndrome with variable intellectual disability and characteristics of abnormal head shape/metopic ridging and facial dysmorphism which may include arched eyebrows, ptosis, downslanting palpebral fissures, epicanthal folds and short upturned nose. Many patients present variable global developmental delay and/or autism spectrum disorder. Additional reported features are cardiac, skeletal or urogenital anomalies. Brain imaging may show agenesis of the corpus callosum.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core