1230295000: B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Congenital anomaly of foot\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of foot\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Finding of limb structure (finding)\Finding of lower limb (finding)\Finding of ankle or foot (finding)\Finding of foot region\Disorder of foot (disorder)\Congenital anomaly of foot\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Finding of limb structure (finding)\Finding of lower limb (finding)\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Congenital anomaly of foot\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Finding of limb structure (finding)\Finding of lower limb (finding)\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of foot\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Finding of limb structure (finding)\Finding of upper limb\Finding of hand region (finding)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Genitourinary congenital anomalies\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Genitourinary congenital anomalies\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Genitourinary congenital anomalies\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Congenital agammaglobulinemia\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of foot\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital immunodeficiency disease\Congenital agammaglobulinemia\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Genitourinary congenital anomalies\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Disease\Disorder of limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Disease\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Disease\Disorder of limb\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Congenital anomaly of foot\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Disease\Disorder of limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of foot\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Disease\Disorder of limb\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Genitourinary congenital anomalies\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of foot\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Jun 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5068781011	B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5068782016	BILU (B-cell immunodeficiency, limb, urogenital) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5068783014	B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5415038016	BILU syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5415040014	Agammaglobulinemia due to TOP2B mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5415041013	Hoffman syndrome due to TOP2B deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5415042018	Agammaglobulinaemia due to TOP2B mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5400139015	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by almost complete lack of B-cells and severe hypogammaglobulinemia, anomalies of the hands and feet, urogenital malformations, and characteristic facial dysmorphism (including microcephaly, highly arched eyebrows, hypoplastic alae nasi, and micrognathia). Most patients are developmentally normal, although moderate mental retardation has also been described.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400140018	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by almost complete lack of B-cells and severe hypogammaglobulinaemia, anomalies of the hands and feet, urogenital malformations, and characteristic facial dysmorphism (including microcephaly, highly arched eyebrows, hypoplastic alae nasi, and micrognathia). Most patients are developmentally normal, although moderate mental retardation has also been described.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5068781011	B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5068782016	BILU (B-cell immunodeficiency, limb, urogenital) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5068783014	B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5415038016	BILU syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5415040014	Agammaglobulinemia due to TOP2B mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5415041013	Hoffman syndrome due to TOP2B deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5415042018	Agammaglobulinaemia due to TOP2B mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5068784015	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by almost complete lack of B-cells and severe hypogammaglobulinaemia, anomalies of the hands and feet, urogenital malformations and characteristic facial dysmorphism (including microcephaly, highly arched eyebrows, hypoplastic alae nasi and micrognathia). Most patients are developmentally normal although moderate intellectual disability has also been described.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5068785019	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by almost complete lack of B-cells and severe hypogammaglobulinemia, anomalies of the hands and feet, urogenital malformations and characteristic facial dysmorphism (including microcephaly, highly arched eyebrows, hypoplastic alae nasi and micrognathia). Most patients are developmentally normal although moderate intellectual disability has also been described.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400139015	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by almost complete lack of B-cells and severe hypogammaglobulinemia, anomalies of the hands and feet, urogenital malformations, and characteristic facial dysmorphism (including microcephaly, highly arched eyebrows, hypoplastic alae nasi, and micrognathia). Most patients are developmentally normal, although moderate mental retardation has also been described.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400140018	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by almost complete lack of B-cells and severe hypogammaglobulinaemia, anomalies of the hands and feet, urogenital malformations, and characteristic facial dysmorphism (including microcephaly, highly arched eyebrows, hypoplastic alae nasi, and micrognathia). Most patients are developmentally normal, although moderate mental retardation has also been described.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3410351001000113	B-Zell-Immundefekt-Extremitätenanomalien-urogenitale Fehlbildungen-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3410351001000113	B-Zell-Immundefekt-Extremitätenanomalien-urogenitale Fehlbildungen-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start