722375007: Bamforth Lazarus syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Hair finding\Disorder of hair\Congenital anomaly of hair\Bamforth Lazarus syndrome

\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Bamforth Lazarus syndrome
\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Bamforth Lazarus syndrome

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Bamforth Lazarus syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Bamforth Lazarus syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Bamforth Lazarus 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\Bamforth Lazarus 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\Bamforth Lazarus syndrome

\Finding of head and neck region\Head finding\Finding of head region\Orofacial cleft\Cleft palate\Bamforth Lazarus syndrome
\Finding of head and neck region\Head finding\Finding of head region\Palate finding\Disorder of palate\Congenital anomaly of palate\Cleft palate\Bamforth Lazarus syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of palate\Congenital anomaly of palate\Cleft palate\Bamforth Lazarus syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Bamforth Lazarus syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Bamforth Lazarus syndrome
\Finding of head and neck region\Finding of neck region\Finding of thyroid gland\Thyroid disease\Hypothyroidism\Congenital hypothyroidism\Bamforth Lazarus syndrome
\Finding of head and neck region\Finding of neck region\Finding of thyroid gland\Thyroid disease\Congenital anomaly of the thyroid gland\Bamforth Lazarus syndrome
\Finding of head and neck region\Finding of neck region\Disorder of neck\Congenital anomaly of neck\Congenital anomaly of the thyroid gland\Bamforth Lazarus syndrome
\Finding of head and neck region\Finding of neck region\Disorder of neck\Thyroid disease\Hypothyroidism\Congenital hypothyroidism\Bamforth Lazarus syndrome
\Finding of head and neck region\Finding of neck region\Disorder of neck\Thyroid disease\Congenital anomaly of the thyroid gland\Bamforth Lazarus syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Bamforth Lazarus 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\Bamforth Lazarus 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\Bamforth Lazarus syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Bamforth Lazarus syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Bamforth Lazarus syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Bamforth Lazarus syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Bamforth Lazarus syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Bamforth Lazarus syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Bamforth Lazarus syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Bamforth Lazarus syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Bamforth Lazarus syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Bamforth Lazarus syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Bamforth Lazarus syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Bamforth Lazarus syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Thyroid disease\Hypothyroidism\Congenital hypothyroidism\Bamforth Lazarus syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Thyroid disease\Congenital anomaly of the thyroid gland\Bamforth Lazarus syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Congenital anomaly of endocrine gland\Congenital anomaly of the thyroid gland\Bamforth Lazarus syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Bamforth Lazarus 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\Bamforth Lazarus 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\Bamforth Lazarus syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Bamforth Lazarus syndrome
\Disease\Disorder of neck\Congenital anomaly of neck\Congenital anomaly of the thyroid gland\Bamforth Lazarus syndrome
\Disease\Disorder of neck\Thyroid disease\Hypothyroidism\Congenital hypothyroidism\Bamforth Lazarus syndrome
\Disease\Disorder of neck\Thyroid disease\Congenital anomaly of the thyroid gland\Bamforth Lazarus syndrome
\Disease\Disorder of head\Disorder of palate\Congenital anomaly of palate\Cleft palate\Bamforth Lazarus syndrome
\Disease\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Bamforth Lazarus syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Bamforth Lazarus syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Bamforth Lazarus syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Bamforth Lazarus syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Bamforth Lazarus syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of neck\Congenital anomaly of the thyroid gland\Bamforth Lazarus syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Bamforth Lazarus syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of endocrine gland\Congenital anomaly of the thyroid gland\Bamforth Lazarus syndrome
\Disease\Congenital disease\Congenital hypothyroidism\Bamforth Lazarus 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\Bamforth Lazarus syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Bamforth Lazarus syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Bamforth Lazarus syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Bamforth Lazarus syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Bamforth Lazarus syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Bamforth Lazarus syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of neck\Congenital anomaly of the thyroid gland\Bamforth Lazarus syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Bamforth Lazarus syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of endocrine gland\Congenital anomaly of the thyroid gland\Bamforth Lazarus syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3331735014 Bamforth Lazarus syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

3331736010 Bamforth Lazarus syndrome en Synonym Active Case sensitive SNOMED CT core

3331737018 Athyroidal hypothyroidism with spiky hair and cleft palate syndrome en Synonym Active Case insensitive SNOMED CT core

3331738011 Hypothyroidism and cleft palate syndrome en Synonym Active Case insensitive SNOMED CT core

3331739015 A very rare syndrome of congenital hypothyroidism with characteristics of thyroid dysgenesis, cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases. Only 8 patients from 6 families have been reported to date. Newborns present at birth with thyroid dysgenesis (in most cases athyreosis) leading to congenital hypothyroidism that manifests with lethargy, poor feeding, macroglossia, cold or mottled skin, persistent jaundice and umbilical hernia. All newborns have a cleft palate and spiky hair. The syndrome is due to homozygous loss-of-function missense mutations located within the forkhead domain of the FOXE1 gene (9q22), encoding thyroid transcription factor 2 (TTF-2). TTF-2 is expressed in the thyroid gland (as well as elsewhere like the tongue, epiglottis and palate) and is thought to play a crucial role in thyroid morphogenesis. The disease is inherited autosomal recessively. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Bamforth Lazarus syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Bamforth Lazarus syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Bamforth Lazarus syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Bamforth Lazarus syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Bamforth Lazarus syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Bamforth Lazarus syndrome	Finding site	Hair structure	true	Inferred relationship	Some	2
Bamforth Lazarus syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Bamforth Lazarus syndrome	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Bamforth Lazarus syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	4
Bamforth Lazarus syndrome	Finding site	Bone structure of head	false	Inferred relationship	Some	4
Bamforth Lazarus syndrome	Associated morphology	Developmental failure of fusion	false	Inferred relationship	Some	4
Bamforth Lazarus syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Bamforth Lazarus syndrome	Is a	Congenital anomaly of the thyroid gland	true	Inferred relationship	Some
Bamforth Lazarus syndrome	Is a	Congenital anomaly of hair	true	Inferred relationship	Some
Bamforth Lazarus syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Bamforth Lazarus syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Bamforth Lazarus syndrome	Is a	Cleft palate	true	Inferred relationship	Some
Bamforth Lazarus syndrome	Is a	Congenital hypothyroidism	true	Inferred relationship	Some
Bamforth Lazarus syndrome	Is a	Digestive system hereditary disorder	false	Inferred relationship	Some
Bamforth Lazarus syndrome	Is a	Hereditary disorder of endocrine system	true	Inferred relationship	Some
Bamforth Lazarus syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Bamforth Lazarus syndrome	Associated morphology	Congenital failure of fusion	false	Inferred relationship	Some	3
Bamforth Lazarus syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Bamforth Lazarus syndrome	Finding site	Palatal structure	false	Inferred relationship	Some	3
Bamforth Lazarus syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
Bamforth Lazarus syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Bamforth Lazarus syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	5
Bamforth Lazarus syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Bamforth Lazarus syndrome	Finding site	Thyroid structure	true	Inferred relationship	Some	3
Bamforth Lazarus syndrome	Finding site	Hair structure	false	Inferred relationship	Some	5
Bamforth Lazarus syndrome	Finding site	Thyroid structure	false	Inferred relationship	Some	4
Bamforth Lazarus syndrome	Associated morphology	Developmental failure of fusion	true	Inferred relationship	Some	1
Bamforth Lazarus syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Bamforth Lazarus syndrome	Finding site	Palatal structure	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3331735014	Bamforth Lazarus syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3331736010	Bamforth Lazarus syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3331737018	Athyroidal hypothyroidism with spiky hair and cleft palate syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3331738011	Hypothyroidism and cleft palate syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3331739015	A very rare syndrome of congenital hypothyroidism with characteristics of thyroid dysgenesis, cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases. Only 8 patients from 6 families have been reported to date. Newborns present at birth with thyroid dysgenesis (in most cases athyreosis) leading to congenital hypothyroidism that manifests with lethargy, poor feeding, macroglossia, cold or mottled skin, persistent jaundice and umbilical hernia. All newborns have a cleft palate and spiky hair. The syndrome is due to homozygous loss-of-function missense mutations located within the forkhead domain of the FOXE1 gene (9q22), encoding thyroid transcription factor 2 (TTF-2). TTF-2 is expressed in the thyroid gland (as well as elsewhere like the tongue, epiglottis and palate) and is thought to play a crucial role in thyroid morphogenesis. The disease is inherited autosomal recessively.	en	Definition	Active	Case sensitive	SNOMED CT core