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

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Metopic ridging, ptosis, facial dysmorphism syndrome
• \Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Metopic ridging, ptosis, facial dysmorphism syndrome
• \Finding of head region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Ptosis of eyelid\Congenital ptosis of upper eyelid\Metopic ridging, ptosis, facial dysmorphism syndrome
• \Finding of head region\Finding of face\constatation à propos d'une paupière\affection des paupières\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Metopic ridging, ptosis, facial dysmorphism syndrome
• \Finding of head region\Finding of face\constatation à propos d'une paupière\affection des paupières\Ptosis of eyelid\Congenital ptosis of upper eyelid\Metopic ridging, ptosis, facial dysmorphism syndrome
• \Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\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)\affection des paupières\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Metopic ridging, ptosis, facial dysmorphism syndrome
• \Finding of head region\Finding of face\Disorder of face (disorder)\affection des paupières\Ptosis of eyelid\Congenital ptosis of upper eyelid\Metopic ridging, ptosis, facial dysmorphism syndrome
• \Cranial suture finding\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Metopic ridging, ptosis, facial dysmorphism syndrome
• \affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Metopic ridging, ptosis, facial dysmorphism syndrome
• \affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Metopic ridging, ptosis, facial dysmorphism syndrome
• \affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Ptosis of eyelid\Congenital ptosis of upper eyelid\Metopic ridging, ptosis, facial dysmorphism syndrome
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Metopic ridging, ptosis, facial dysmorphism syndrome
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Metopic ridging, ptosis, facial dysmorphism syndrome
• \affection de la tête\Disorder of face (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Metopic ridging, ptosis, facial dysmorphism syndrome
• \affection de la tête\Disorder of face (disorder)\affection des paupières\Ptosis of eyelid\Congenital ptosis of upper eyelid\Metopic ridging, ptosis, facial dysmorphism syndrome
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Metopic ridging, ptosis, facial dysmorphism syndrome
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Metopic ridging, ptosis, facial dysmorphism syndrome
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Metopic ridging, ptosis, facial dysmorphism syndrome
• \affection de la tête\Congenital anomaly of head\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Metopic ridging, ptosis, facial dysmorphism syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'une paupière\affection des paupières\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Metopic ridging, ptosis, facial dysmorphism syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'une paupière\affection des paupières\Ptosis of eyelid\Congenital ptosis of upper eyelid\Metopic ridging, ptosis, facial dysmorphism syndrome
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Metopic ridging, ptosis, facial dysmorphism syndrome
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Metopic ridging, ptosis, facial dysmorphism syndrome
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Ptosis of eyelid\Congenital ptosis of upper eyelid\Metopic ridging, ptosis, facial dysmorphism syndrome
• \constatation à propos des yeux ou de la vue\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Metopic ridging, ptosis, facial dysmorphism syndrome
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Metopic ridging, ptosis, facial dysmorphism syndrome
• \Musculoskeletal finding\Joint finding\Lesion of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Metopic ridging, ptosis, facial dysmorphism syndrome
• \Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Metopic ridging, ptosis, facial dysmorphism syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Metopic ridging, ptosis, facial dysmorphism syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Metopic ridging, ptosis, facial dysmorphism syndrome
• \Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Metopic ridging, ptosis, facial dysmorphism syndrome
• \Disease\Genetic disease\Metopic ridging, ptosis, facial dysmorphism syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Metopic ridging, ptosis, facial dysmorphism syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Metopic ridging, ptosis, facial dysmorphism syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Ptosis of eyelid\Congenital ptosis of upper eyelid\Metopic ridging, ptosis, facial dysmorphism syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Metopic ridging, ptosis, facial dysmorphism syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Metopic ridging, ptosis, facial dysmorphism syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Metopic ridging, ptosis, facial dysmorphism syndrome
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Metopic ridging, ptosis, facial dysmorphism syndrome
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Metopic ridging, ptosis, facial dysmorphism syndrome
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\affection des paupières\Ptosis of eyelid\Congenital ptosis of upper eyelid\Metopic ridging, ptosis, facial dysmorphism syndrome
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Metopic ridging, ptosis, facial dysmorphism syndrome
• \Disease\affection de la tête\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\affection de la tête\Disorder of face (disorder)\affection des paupières\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Metopic ridging, ptosis, facial dysmorphism syndrome
• \Disease\affection de la tête\Disorder of face (disorder)\affection des paupières\Ptosis of eyelid\Congenital ptosis of upper eyelid\Metopic ridging, ptosis, facial dysmorphism syndrome
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Metopic ridging, ptosis, facial dysmorphism syndrome
• \Disease\affection de la tête\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\affection de la tête\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Metopic ridging, ptosis, facial dysmorphism syndrome
• \Disease\affection de la tête\Congenital anomaly of head\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Metopic ridging, ptosis, facial dysmorphism syndrome
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Metopic ridging, ptosis, facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Metopic ridging, ptosis, facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Metopic ridging, ptosis, facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Metopic ridging, ptosis, facial dysmorphism syndrome
• \Disease\Congenital disease\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\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Metopic ridging, ptosis, facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Metopic ridging, ptosis, facial dysmorphism syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Metopic ridging, ptosis, facial dysmorphism syndrome
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Metopic ridging, ptosis, facial dysmorphism syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Metopic ridging, ptosis, facial dysmorphism syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Metopic ridging, ptosis, facial dysmorphism syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Metopic ridging, ptosis, facial dysmorphism syndrome
• \Disease\trouble du développement\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\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital ptosis of upper eyelid\Metopic ridging, ptosis, facial dysmorphism syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Metopic ridging, ptosis, facial dysmorphism syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\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

This concept is not in any reference sets

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