719910004: Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Hair finding\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome

\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome

\Digestive system finding\Finding of mouth region\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Digestive system finding\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Tricho-retino-dento-digital syndrome
\Digestive system finding\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Hereditary disorder of tooth\Tricho-retino-dento-digital syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Tricho-retino-dento-digital syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Hereditary disorder of tooth\Tricho-retino-dento-digital syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Tricho-retino-dento-digital syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Hereditary disorder of tooth\Tricho-retino-dento-digital syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Digestive system finding\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Digestive system finding\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital 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 hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital 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 hair\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of mouth region\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Finding of head region\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Tricho-retino-dento-digital syndrome
\Finding of head region\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Hereditary disorder of tooth\Tricho-retino-dento-digital syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Tricho-retino-dento-digital syndrome
\Finding of head region\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Tricho-retino-dento-digital syndrome
\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Finding of head region\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome

\Disorder of head\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Tricho-retino-dento-digital syndrome
\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Tricho-retino-dento-digital syndrome
\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Tricho-retino-dento-digital syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Tricho-retino-dento-digital syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Hereditary disorder of tooth\Tricho-retino-dento-digital syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Tricho-retino-dento-digital syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Tricho-retino-dento-digital syndrome
\Disease\Disorder of embryonic structure\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Tricho-retino-dento-digital syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Hereditary disorder of tooth\Tricho-retino-dento-digital syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Tricho-retino-dento-digital 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 hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital 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 hair\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Hereditary disorder of tooth\Tricho-retino-dento-digital syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Tricho-retino-dento-digital syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Hereditary disorder of tooth\Tricho-retino-dento-digital syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Disease\Disorder of head\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Disease\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Tricho-retino-dento-digital syndrome
\Disease\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Disease\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Tricho-retino-dento-digital syndrome
\Disease\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Disease\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Disease\Developmental disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Tricho-retino-dento-digital syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Tricho-retino-dento-digital syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3318421011 Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3318429013 Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome en Synonym Active Case insensitive SNOMED CT core

3318430015 Tricho-retino-dento-digital syndrome en Synonym Active Case insensitive SNOMED CT core

3318431016 Bork syndrome en Synonym Active Case sensitive SNOMED CT core

3318432011 An autosomal dominant ectodermal dysplasia syndrome, with characteristics of uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia and associated with early-onset cataract, retinal pigmentary dystrophy and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Tricho-retino-dento-digital syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Tricho-retino-dento-digital syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Tricho-retino-dento-digital syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Tricho-retino-dento-digital syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Tricho-retino-dento-digital syndrome	Finding site	Ectoderm structure	true	Inferred relationship	Some	1
Tricho-retino-dento-digital syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Tricho-retino-dento-digital syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Tricho-retino-dento-digital syndrome	Finding site	Tooth structure	true	Inferred relationship	Some	3
Tricho-retino-dento-digital syndrome	Is a	Digestive system hereditary disorder	false	Inferred relationship	Some
Tricho-retino-dento-digital syndrome	Finding site	Hair structure	true	Inferred relationship	Some	2
Tricho-retino-dento-digital syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Tricho-retino-dento-digital syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Tricho-retino-dento-digital syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Tricho-retino-dento-digital syndrome	Is a	Hereditary disorder of tooth	true	Inferred relationship	Some
Tricho-retino-dento-digital syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Tricho-retino-dento-digital syndrome	Is a	Ectodermal dysplasia with hair-tooth defects	true	Inferred relationship	Some
Tricho-retino-dento-digital syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Tricho-retino-dento-digital syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Tricho-retino-dento-digital syndrome	Finding site	Skin structure	false	Inferred relationship	Some	2
Tricho-retino-dento-digital syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Tricho-retino-dento-digital syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Tricho-retino-dento-digital syndrome	Finding site	Ectoderm structure	false	Inferred relationship	Some	2
Tricho-retino-dento-digital syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Tricho-retino-dento-digital syndrome	Finding site	Skin structure	false	Inferred relationship	Some	3

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
3318421011	Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3318429013	Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3318430015	Tricho-retino-dento-digital syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3318431016	Bork syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3318432011	An autosomal dominant ectodermal dysplasia syndrome, with characteristics of uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia and associated with early-onset cataract, retinal pigmentary dystrophy and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.	en	Definition	Active	Case sensitive	SNOMED CT core