725140007: Temple Baraitser syndrome (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation à propos de la structure d'un membre\constatation à propos d'un ongle\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Temple Baraitser syndrome (disorder)
\constatation à propos de la structure d'un membre\constatation à propos d'un ongle\Disorder of nail (disorder)\Developmental abnormality of nail\anomalie congénitale de l'ongle (trouble)\Temple Baraitser syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)\Hypoplasia of thumb\Temple Baraitser syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\anomalie congénitale de l'ongle (trouble)\Temple Baraitser syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Temple Baraitser syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Disorder of toe\Congenital anomaly of toe\Temple Baraitser syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Temple Baraitser syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Disorder of nail (disorder)\Developmental abnormality of nail\anomalie congénitale de l'ongle (trouble)\Temple Baraitser syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Hypoplasia of thumb\Temple Baraitser syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Hypoplasia of thumb\Temple Baraitser syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Hypoplasia of thumb\Temple Baraitser syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Congenital anomaly of foot\Congenital anomaly of toe\Temple Baraitser syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Disorder of toe\Congenital anomaly of toe\Temple Baraitser syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Temple Baraitser syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb\Hypoplasia of lower limb\Temple Baraitser syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)\Hypoplasia of thumb\Temple Baraitser syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\anomalie congénitale de l'ongle (trouble)\Temple Baraitser syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Temple Baraitser syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Temple Baraitser syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of lower limb\Hypoplasia of lower limb\Temple Baraitser syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Hypoplasia of thumb\Temple Baraitser syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Hypoplasia of thumb\Temple Baraitser syndrome (disorder)
\constatation à propos de la structure d'un membre\Finding of lower limb\Finding of ankle or foot (finding)\Finding of foot region\Toe finding (finding)\Disorder of toe\Congenital anomaly of toe\Temple Baraitser syndrome (disorder)
\constatation à propos de la structure d'un membre\Finding of lower limb\Finding of ankle or foot (finding)\Finding of foot region\Disorder of foot (disorder)\Congenital anomaly of foot\Congenital anomaly of toe\Temple Baraitser syndrome (disorder)
\constatation à propos de la structure d'un membre\Finding of lower limb\Finding of ankle or foot (finding)\Finding of foot region\Disorder of foot (disorder)\Disorder of toe\Congenital anomaly of toe\Temple Baraitser syndrome (disorder)
\constatation à propos de la structure d'un membre\Finding of lower limb\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Congenital anomaly of foot\Congenital anomaly of toe\Temple Baraitser syndrome (disorder)
\constatation à propos de la structure d'un membre\Finding of lower limb\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Disorder of toe\Congenital anomaly of toe\Temple Baraitser syndrome (disorder)
\constatation à propos de la structure d'un membre\Finding of lower limb\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Temple Baraitser syndrome (disorder)
\constatation à propos de la structure d'un membre\Finding of lower limb\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb\Hypoplasia of lower limb\Temple Baraitser syndrome (disorder)
\constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Hypoplasia of thumb\Temple Baraitser syndrome (disorder)
\constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Hypoplasia of thumb\Temple Baraitser syndrome (disorder)
\constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Hypoplasia of thumb\Temple Baraitser syndrome (disorder)
\constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Finding of hand region\Finding of digit of hand\Finding of thumb\Congenital malformation of thumb (disorder)\Hypoplasia of thumb\Temple Baraitser syndrome (disorder)
\constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Finding of hand region\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Hypoplasia of thumb\Temple Baraitser syndrome (disorder)

\Integumentary system finding\constatation à propos d'un ongle\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Temple Baraitser syndrome (disorder)
\Integumentary system finding\constatation à propos d'un ongle\Disorder of nail (disorder)\Developmental abnormality of nail\anomalie congénitale de l'ongle (trouble)\Temple Baraitser syndrome (disorder)
\Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Temple Baraitser syndrome (disorder)
\Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\anomalie congénitale de l'ongle (trouble)\Temple Baraitser syndrome (disorder)
\Integumentary system finding\troubles tégumentaires\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Temple Baraitser syndrome (disorder)
\Integumentary system finding\troubles tégumentaires\Disorder of nail (disorder)\Developmental abnormality of nail\anomalie congénitale de l'ongle (trouble)\Temple Baraitser syndrome (disorder)

\Disease\Genetic disease\Genetic disorder of nail (disorder)\Temple Baraitser syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Temple Baraitser syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Temple Baraitser syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Temple Baraitser syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Temple Baraitser syndrome (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Temple Baraitser syndrome (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\anomalie congénitale de l'ongle (trouble)\Temple Baraitser syndrome (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Temple Baraitser syndrome (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Disorder of nail (disorder)\Developmental abnormality of nail\anomalie congénitale de l'ongle (trouble)\Temple Baraitser syndrome (disorder)
\Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)\Hypoplasia of thumb\Temple Baraitser syndrome (disorder)
\Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\anomalie congénitale de l'ongle (trouble)\Temple Baraitser syndrome (disorder)
\Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Temple Baraitser syndrome (disorder)
\Disease\affection d'une extrémité\Disorder of digit\Disorder of toe\Congenital anomaly of toe\Temple Baraitser syndrome (disorder)
\Disease\affection d'une extrémité\Disorder of digit\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Temple Baraitser syndrome (disorder)
\Disease\affection d'une extrémité\Disorder of digit\Disorder of nail (disorder)\Developmental abnormality of nail\anomalie congénitale de l'ongle (trouble)\Temple Baraitser syndrome (disorder)
\Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Hypoplasia of thumb\Temple Baraitser syndrome (disorder)
\Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Hypoplasia of thumb\Temple Baraitser syndrome (disorder)
\Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Hypoplasia of thumb\Temple Baraitser syndrome (disorder)
\Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Congenital anomaly of foot\Congenital anomaly of toe\Temple Baraitser syndrome (disorder)
\Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Disorder of toe\Congenital anomaly of toe\Temple Baraitser syndrome (disorder)
\Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Temple Baraitser syndrome (disorder)
\Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb\Hypoplasia of lower limb\Temple Baraitser syndrome (disorder)
\Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)\Hypoplasia of thumb\Temple Baraitser syndrome (disorder)
\Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\anomalie congénitale de l'ongle (trouble)\Temple Baraitser syndrome (disorder)
\Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Temple Baraitser syndrome (disorder)
\Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Temple Baraitser syndrome (disorder)
\Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of lower limb\Hypoplasia of lower limb\Temple Baraitser syndrome (disorder)
\Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Hypoplasia of thumb\Temple Baraitser syndrome (disorder)
\Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Hypoplasia of thumb\Temple Baraitser syndrome (disorder)
\Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Temple Baraitser syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Temple Baraitser syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Temple Baraitser syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower limb\Hypoplasia of lower limb\Temple Baraitser syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)\Hypoplasia of thumb\Temple Baraitser syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\anomalie congénitale de l'ongle (trouble)\Temple Baraitser syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Temple Baraitser syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Temple Baraitser syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Hypoplasia of lower limb\Temple Baraitser syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Hypoplasia of thumb\Temple Baraitser syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Hypoplasia of thumb\Temple Baraitser syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\anomalie congénitale de l'ongle (trouble)\Temple Baraitser syndrome (disorder)
\Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Temple Baraitser syndrome (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\Temple Baraitser 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\Temple Baraitser syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Temple Baraitser syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower limb\Hypoplasia of lower limb\Temple Baraitser syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)\Hypoplasia of thumb\Temple Baraitser syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\anomalie congénitale de l'ongle (trouble)\Temple Baraitser syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Temple Baraitser syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Temple Baraitser syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Hypoplasia of lower limb\Temple Baraitser syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Hypoplasia of thumb\Temple Baraitser syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)\Hypoplasia of thumb\Temple Baraitser syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\anomalie congénitale de l'ongle (trouble)\Temple Baraitser syndrome (disorder)
\Disease\trouble du développement\Developmental abnormality of nail\anomalie congénitale de l'ongle (trouble)\Temple Baraitser syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3439392012 Temple Baraitser syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3439393019 Temple Baraitser syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3439394013 Severe intellectual disability, hypoplasia of thumb and hallux syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3439395014 A rare developmental anomaly syndrome with characteristics of severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients. 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
Temple Baraitser syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Temple Baraitser syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Temple Baraitser syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Temple Baraitser syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Temple Baraitser syndrome (disorder)	localisation d'une constatation (attribut)	pouce	true	Inferred relationship	Some	2
Temple Baraitser syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Temple Baraitser syndrome (disorder)	localisation d'une constatation (attribut)	orteil (structure corporelle)	true	Inferred relationship	Some	1
Temple Baraitser syndrome (disorder)	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	3
Temple Baraitser syndrome (disorder)	morphologie associée (attribut)	Hypoplasia (morphologic abnormality)	true	Inferred relationship	Some	2
Temple Baraitser syndrome (disorder)	morphologie associée (attribut)	Hypoplasia (morphologic abnormality)	true	Inferred relationship	Some	1
Temple Baraitser syndrome (disorder)	localisation d'une constatation (attribut)	Nail unit structure	true	Inferred relationship	Some	3
Temple Baraitser syndrome (disorder)	est un(e) (attribut)	Genetic disorder of nail (disorder)	true	Inferred relationship	Some
Temple Baraitser syndrome (disorder)	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Temple Baraitser syndrome (disorder)	est un(e) (attribut)	Congenital anomaly of toe	true	Inferred relationship	Some
Temple Baraitser syndrome (disorder)	est un(e) (attribut)	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Temple Baraitser syndrome (disorder)	est un(e) (attribut)	anomalie congénitale de l'ongle (trouble)	true	Inferred relationship	Some
Temple Baraitser syndrome (disorder)	est un(e) (attribut)	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Temple Baraitser syndrome (disorder)	est un(e) (attribut)	Mental retardation	false	Inferred relationship	Some
Temple Baraitser syndrome (disorder)	est un(e) (attribut)	Hypoplasia of thumb	true	Inferred relationship	Some
Temple Baraitser syndrome (disorder)	est un(e) (attribut)	Hypoplasia of lower limb	true	Inferred relationship	Some
Temple Baraitser syndrome (disorder)	est un(e) (attribut)	Hereditary disorder of the integument	true	Inferred relationship	Some
Temple Baraitser syndrome (disorder)	morphologie associée (attribut)	Congenital hypoplasia	false	Inferred relationship	Some	3
Temple Baraitser syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	3
Temple Baraitser syndrome (disorder)	localisation d'une constatation (attribut)	orteil (structure corporelle)	false	Inferred relationship	Some	3
Temple Baraitser syndrome (disorder)	morphologie associée (attribut)	Congenital hypoplasia	false	Inferred relationship	Some	4
Temple Baraitser syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	4
Temple Baraitser syndrome (disorder)	localisation d'une constatation (attribut)	pouce	false	Inferred relationship	Some	4
Temple Baraitser syndrome (disorder)	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	5
Temple Baraitser syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	5
Temple Baraitser syndrome (disorder)	localisation d'une constatation (attribut)	Nail structure	false	Inferred relationship	Some	5
Temple Baraitser syndrome (disorder)	est un(e) (attribut)	Intellectual disability	true	Inferred relationship	Some

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
3439392012	Temple Baraitser syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3439393019	Temple Baraitser syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3439394013	Severe intellectual disability, hypoplasia of thumb and hallux syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3439395014	A rare developmental anomaly syndrome with characteristics of severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core