725140007: Temple Baraitser syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\...

\Nail finding\Disorder of nail\...

\Genetic disorder of nail\Temple Baraitser syndrome

\Developmental abnormality of nail\Congenital anomaly of nail\Temple Baraitser syndrome

\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Temple Baraitser syndrome
\Disorder of skin\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Temple Baraitser syndrome
\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Temple Baraitser syndrome

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Temple Baraitser syndrome

\Finding of limb structure\Nail finding\Disorder of nail\Genetic disorder of nail\Temple Baraitser syndrome
\Finding of limb structure\Nail finding\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Temple Baraitser syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of thumb\Hypoplasia of thumb\Temple Baraitser syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of nail\Temple Baraitser syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of toe\Temple Baraitser syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Disorder of toe\Congenital anomaly of toe\Temple Baraitser syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Disorder of nail\Genetic disorder of nail\Temple Baraitser syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Temple Baraitser syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of thumb\Hypoplasia of thumb\Temple Baraitser syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Hypoplasia of thumb\Temple Baraitser syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Hypoplasia of thumb\Temple Baraitser syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Congenital anomaly of foot\Congenital anomaly of toe\Temple Baraitser syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Disorder of toe\Congenital anomaly of toe\Temple Baraitser syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Temple Baraitser syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Hypoplasia of lower limb\Temple Baraitser syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of thumb\Hypoplasia of thumb\Temple Baraitser syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Temple Baraitser syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of toe\Temple Baraitser syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Temple Baraitser syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Hypoplasia of lower limb\Temple Baraitser syndrome
\Finding of limb structure\Disorder of extremity\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
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Hypoplasia of thumb\Temple Baraitser syndrome
\Finding of limb structure\Finding of lower limb\Finding of ankle or foot\Finding of foot region\Toe finding\Disorder of toe\Congenital anomaly of toe\Temple Baraitser syndrome
\Finding of limb structure\Finding of lower limb\Finding of ankle or foot\Finding of foot region\Disorder of foot\Congenital anomaly of foot\Congenital anomaly of toe\Temple Baraitser syndrome
\Finding of limb structure\Finding of lower limb\Finding of ankle or foot\Finding of foot region\Disorder of foot\Disorder of toe\Congenital anomaly of toe\Temple Baraitser syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Congenital anomaly of foot\Congenital anomaly of toe\Temple Baraitser syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Disorder of toe\Congenital anomaly of toe\Temple Baraitser syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Temple Baraitser syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb\Hypoplasia of lower limb\Temple Baraitser syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of thumb\Hypoplasia of thumb\Temple Baraitser syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Hypoplasia of thumb\Temple Baraitser syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Hypoplasia of thumb\Temple Baraitser syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Finding of thumb\Congenital anomaly of thumb\Hypoplasia of thumb\Temple Baraitser syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of thumb\Hypoplasia of thumb\Temple Baraitser syndrome

\General finding of soft tissue\Skin finding\Nail finding\Disorder of nail\Genetic disorder of nail\Temple Baraitser syndrome
\General finding of soft tissue\Skin finding\Nail finding\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Temple Baraitser syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Temple Baraitser syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Temple Baraitser syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Temple Baraitser syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Temple Baraitser syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Temple Baraitser syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Temple Baraitser syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Temple Baraitser syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Temple Baraitser syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Temple Baraitser syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Temple Baraitser syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Temple Baraitser syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Temple Baraitser syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Temple Baraitser syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Temple Baraitser syndrome
\Integumentary system finding\Skin finding\Nail finding\Disorder of nail\Genetic disorder of nail\Temple Baraitser syndrome
\Integumentary system finding\Skin finding\Nail finding\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Temple Baraitser syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Temple Baraitser syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Temple Baraitser syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Temple Baraitser syndrome

\Disease\Genetic disease\Genetic disorder of nail\Temple Baraitser syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Temple Baraitser syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Temple Baraitser syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Temple Baraitser syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Temple Baraitser syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Temple Baraitser syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Temple Baraitser syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Temple Baraitser syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Temple Baraitser syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Temple Baraitser syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of thumb\Hypoplasia of thumb\Temple Baraitser syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of nail\Temple Baraitser syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of toe\Temple Baraitser syndrome
\Disease\Disorder of extremity\Disorder of digit\Disorder of toe\Congenital anomaly of toe\Temple Baraitser syndrome
\Disease\Disorder of extremity\Disorder of digit\Disorder of nail\Genetic disorder of nail\Temple Baraitser syndrome
\Disease\Disorder of extremity\Disorder of digit\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Temple Baraitser syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of thumb\Hypoplasia of thumb\Temple Baraitser syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Hypoplasia of thumb\Temple Baraitser syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Hypoplasia of thumb\Temple Baraitser syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Congenital anomaly of foot\Congenital anomaly of toe\Temple Baraitser syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Disorder of toe\Congenital anomaly of toe\Temple Baraitser syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Temple Baraitser syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Hypoplasia of lower limb\Temple Baraitser syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of thumb\Hypoplasia of thumb\Temple Baraitser syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Temple Baraitser syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of toe\Temple Baraitser syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Temple Baraitser syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Hypoplasia of lower limb\Temple Baraitser syndrome
\Disease\Disorder of extremity\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
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Hypoplasia of thumb\Temple Baraitser syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Temple Baraitser syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Temple Baraitser syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Hypoplasia of lower limb\Temple Baraitser syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of thumb\Hypoplasia of thumb\Temple Baraitser syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Temple Baraitser syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of toe\Temple Baraitser syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Temple Baraitser syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Hypoplasia of lower limb\Temple Baraitser syndrome
\Disease\Congenital disease\Congenital anomaly\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
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Hypoplasia of thumb\Temple Baraitser syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Temple Baraitser syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Genetic disorder of nail\Temple Baraitser syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail\Congenital anomaly of nail\Temple Baraitser syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of nail\Temple Baraitser syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Temple Baraitser syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Temple Baraitser syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Temple Baraitser syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Temple Baraitser syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Hypoplasia of lower limb\Temple Baraitser syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of thumb\Hypoplasia of thumb\Temple Baraitser syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Temple Baraitser syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of toe\Temple Baraitser syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Temple Baraitser syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Hypoplasia of lower limb\Temple Baraitser syndrome
\Disease\Developmental disorder\Congenital anomaly\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
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Hypoplasia of thumb\Temple Baraitser syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail\Temple Baraitser syndrome
\Disease\Developmental disorder\Developmental abnormality of nail\Congenital anomaly of nail\Temple Baraitser syndrome

Status: current, Primitive. 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 Case sensitive SNOMED CT core

3439393019 Temple Baraitser syndrome en Synonym Active Case sensitive SNOMED CT core

3439394013 Severe intellectual disability, hypoplasia of thumb and hallux syndrome en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Temple Baraitser syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Temple Baraitser syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Temple Baraitser syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Temple Baraitser syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Temple Baraitser syndrome	Finding site	Thumb structure	true	Inferred relationship	Some	2
Temple Baraitser syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Temple Baraitser syndrome	Finding site	Toe structure	true	Inferred relationship	Some	1
Temple Baraitser syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Temple Baraitser syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Some	2
Temple Baraitser syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Some	1
Temple Baraitser syndrome	Finding site	Nail unit structure	true	Inferred relationship	Some	3
Temple Baraitser syndrome	Is a	Genetic disorder of nail	true	Inferred relationship	Some
Temple Baraitser syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Temple Baraitser syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	4
Temple Baraitser syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Temple Baraitser syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	5
Temple Baraitser syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
Temple Baraitser syndrome	Is a	Congenital anomaly of toe	true	Inferred relationship	Some
Temple Baraitser syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Temple Baraitser syndrome	Is a	Congenital anomaly of nail	true	Inferred relationship	Some
Temple Baraitser syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Temple Baraitser syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Temple Baraitser syndrome	Is a	Hypoplasia of thumb	true	Inferred relationship	Some
Temple Baraitser syndrome	Is a	Hypoplasia of lower limb	true	Inferred relationship	Some
Temple Baraitser syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Temple Baraitser syndrome	Associated morphology	Congenital hypoplasia	false	Inferred relationship	Some	3
Temple Baraitser syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Temple Baraitser syndrome	Finding site	Toe structure	false	Inferred relationship	Some	3
Temple Baraitser syndrome	Associated morphology	Congenital hypoplasia	false	Inferred relationship	Some	4
Temple Baraitser syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Temple Baraitser syndrome	Finding site	Thumb structure	false	Inferred relationship	Some	4
Temple Baraitser syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	5
Temple Baraitser syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Temple Baraitser syndrome	Finding site	Nail structure	false	Inferred relationship	Some	5
Temple Baraitser syndrome	Is a	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3439392012	Temple Baraitser syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3439393019	Temple Baraitser syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3439394013	Severe intellectual disability, hypoplasia of thumb and hallux syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core