763278004: Facial dysmorphism, cleft palate, loose skin syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Facial dysmorphism, cleft palate, loose skin syndrome
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Facial dysmorphism, cleft palate, loose skin syndrome
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Facial dysmorphism, cleft palate, loose skin syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head region\Orofacial cleft (disorder)\fente palatine\Facial dysmorphism, cleft palate, loose skin 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\Facial dysmorphism, cleft palate, loose skin syndrome
• \Finding of head region\Palate finding\Disorder of palate (disorder)\Congenital anomaly of palate\fente palatine\Facial dysmorphism, cleft palate, loose skin syndrome
• \affection de la tête\Disorder of palate (disorder)\Congenital anomaly of palate\fente palatine\Facial dysmorphism, cleft palate, loose skin syndrome
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Facial dysmorphism, cleft palate, loose skin syndrome
• \affection de la tête\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\fente palatine\Facial dysmorphism, cleft palate, loose skin syndrome
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Facial dysmorphism, cleft palate, loose skin syndrome
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of palate\fente palatine\Facial dysmorphism, cleft palate, loose skin syndrome
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Facial dysmorphism, cleft palate, loose skin syndrome
• \Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Facial dysmorphism, cleft palate, loose skin syndrome
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Facial dysmorphism, cleft palate, loose skin syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Facial dysmorphism, cleft palate, loose skin syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Facial dysmorphism, cleft palate, loose skin syndrome
• \Disease\affection de la tête\Disorder of palate (disorder)\Congenital anomaly of palate\fente palatine\Facial dysmorphism, cleft palate, loose skin syndrome
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Facial dysmorphism, cleft palate, loose skin syndrome
• \Disease\affection de la tête\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\fente palatine\Facial dysmorphism, cleft palate, loose skin syndrome
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Facial dysmorphism, cleft palate, loose skin syndrome
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of palate\fente palatine\Facial dysmorphism, cleft palate, loose skin syndrome
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Facial dysmorphism, cleft palate, loose skin syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Facial dysmorphism, cleft palate, loose skin syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\fente palatine\Facial dysmorphism, cleft palate, loose skin syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Facial dysmorphism, cleft palate, loose skin syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\fente palatine\Facial dysmorphism, cleft palate, loose skin syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Facial dysmorphism, cleft palate, loose skin syndrome
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Facial dysmorphism, cleft palate, loose skin syndrome
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Facial dysmorphism, cleft palate, loose skin syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Facial dysmorphism, cleft palate, loose skin syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\fente palatine\Facial dysmorphism, cleft palate, loose skin 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\Facial dysmorphism, cleft palate, loose skin syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\fente palatine\Facial dysmorphism, cleft palate, loose skin syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Facial dysmorphism, cleft palate, loose skin syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3638371010	Dysmorphism, cleft palate, loose skin syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3638375018	Facial dysmorphism, cleft palate, loose skin syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3638376017	Facial dysmorphism, cleft palate, loose skin syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3638372015	A rare genetic developmental defect during embryogenesis with characteristics of severe psychomotor delay, intellectual disability, congenital, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (including elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, pectus excavatum, severe scoliosis, hypoplastic scrotum and mixed hearing loss.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

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