719256004: Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Skin AND/OR mucosa finding (finding)\lésion de la peau ou d'une muqueuse\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Disorder of skin of neck (disorder)\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Skin lesion\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Disorder of skin of neck (disorder)\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Skin lesion\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\Disorder of soft tissue of neck\Disorder of skin AND/OR subcutaneous tissue of neck (disorder)\Disorder of skin of neck (disorder)\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\Disorder of skin AND/OR subcutaneous tissue of neck (disorder)\Disorder of skin of neck (disorder)\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \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)\Disorder of skin of neck (disorder)\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \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\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \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)\Skin lesion\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\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\Multiple malformation syndrome with facial-limb defects as major feature\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Finding of neck region\Lesion of neck\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Finding of neck region\affection du cou\Disorder of soft tissue of neck\Disorder of skin AND/OR subcutaneous tissue of neck (disorder)\Disorder of skin of neck (disorder)\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Finding of neck region\affection du cou\anomalie congénitale du cou\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\Disorder of skin AND/OR subcutaneous tissue of neck (disorder)\Disorder of skin of neck (disorder)\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin of neck (disorder)\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Disorder of skin of neck (disorder)\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Skin lesion\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\Disorder of skin AND/OR subcutaneous tissue of neck (disorder)\Disorder of skin of neck (disorder)\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin of neck (disorder)\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \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\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\affection du cou\Disorder of soft tissue of neck\Disorder of skin AND/OR subcutaneous tissue of neck (disorder)\Disorder of skin of neck (disorder)\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\affection du cou\anomalie congénitale du cou\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\anomalie congénitale du cou\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of soft tissue of neck\Disorder of skin AND/OR subcutaneous tissue of neck (disorder)\Disorder of skin of neck (disorder)\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\Disorder of skin AND/OR subcutaneous tissue of neck (disorder)\Disorder of skin of neck (disorder)\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin of neck (disorder)\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\anomalie congénitale du cou\Neck webbing\Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Neck webbing\Pterygium colli with intellectual disability and digital anomaly 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
3315704019	Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3315705018	Pterygium colli with intellectual disability and digital anomaly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3315706017	Khalifa Graham syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3315710019	This syndrome has characteristics of pterygium colli, digital anomalies and craniofacial abnormalities. Digital anomalies include abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges. Craniofacial abnormalities include brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, prominent low-set and posteriorly rotated ears. It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant.	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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