722375007: Bamforth Lazarus syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

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

\Hair finding\Disorder of hair\Congenital anomaly of hair\Bamforth Lazarus syndrome (disorder)

\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Bamforth Lazarus syndrome (disorder)
\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Bamforth Lazarus syndrome (disorder)

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Bamforth Lazarus syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Bamforth Lazarus syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Bamforth Lazarus syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Bamforth Lazarus syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Bamforth Lazarus syndrome (disorder)

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

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Bamforth Lazarus syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Bamforth Lazarus syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Bamforth Lazarus syndrome (disorder)
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Bamforth Lazarus syndrome (disorder)
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Bamforth Lazarus syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Bamforth Lazarus syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Bamforth Lazarus syndrome (disorder)

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

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

Descriptions:

Id Description Lang Type Status Case? Module

3331735014 Bamforth Lazarus syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3331736010 Bamforth Lazarus syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3331737018 Athyroidal hypothyroidism with spiky hair and cleft palate syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3331738011 Hypothyroidism and cleft palate syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

9998081000172117 syndrome d'hypothyroïdie par athyréose, cheveux hérissés et fente palatine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

9998091000172119 syndrome de Bamforth-Lazarus fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5225001000172116 syndroom van Bamforth-Lazarus nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5225011000172118 Bamforth-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

5225021000172111 Bamforth-Lazarus-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

5225031000172114 syndroom van hypothyreoïdie en gespleten gehemelte nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3331735014	Bamforth Lazarus syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3331736010	Bamforth Lazarus syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3331737018	Athyroidal hypothyroidism with spiky hair and cleft palate syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331738011	Hypothyroidism and cleft palate syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
9998081000172117	syndrome d'hypothyroïdie par athyréose, cheveux hérissés et fente palatine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
9998091000172119	syndrome de Bamforth-Lazarus	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5225001000172116	syndroom van Bamforth-Lazarus	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5225011000172118	Bamforth-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
5225021000172111	Bamforth-Lazarus-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
5225031000172114	syndroom van hypothyreoïdie en gespleten gehemelte	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)