| Members |
languageDialectCode |
typeId |
value |
| Union for International Cancer Control ypT1a (qualifier value) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| ypT1a1 (UICC) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| ypT1a1 (UICC) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| ypT1a2 (UICC) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| ypT1a2 (UICC) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| ypT1b (UICC) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| ypT1b (UICC) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| ypT1b1 (UICC) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| ypT1b1 (UICC) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| Union for International Cancer Control ypT1b2 (qualifier value) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| Union for International Cancer Control ypT1b2 (qualifier value) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| Union for International Cancer Control ypT1b3 (qualifier value) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| Union for International Cancer Control ypT1b3 (qualifier value) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| Union for International Cancer Control ypT1c (qualifier value) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| Union for International Cancer Control ypT1c (qualifier value) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| Union for International Cancer Control ypT1c1 (qualifier value) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| Union for International Cancer Control ypT1c1 (qualifier value) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| ypT1c2 (UICC) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| ypT1c2 (UICC) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| Union for International Cancer Control ypT1c3 (qualifier value) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| Union for International Cancer Control ypT1c3 (qualifier value) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| ypT1d (UICC) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| ypT1d (UICC) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| Union for International Cancer Control ypT1mi (qualifier value) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| Union for International Cancer Control ypT1mi (qualifier value) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| ypT2 (UICC) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| ypT2 (UICC) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| ypT2a (UICC) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| ypT2a (UICC) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| Union for International Cancer Control ypT2a1 (qualifier value) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| Union for International Cancer Control ypT2a1 (qualifier value) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| ypT2a2 (UICC) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| ypT2a2 (UICC) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| Union for International Cancer Control ypT2b (qualifier value) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| Union for International Cancer Control ypT2b (qualifier value) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| ypT2c (UICC) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| ypT2c (UICC) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| ypT2d (UICC) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| ypT2d (UICC) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| Union for International Cancer Control ypT3 (qualifier value) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| Union for International Cancer Control ypT3 (qualifier value) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| Union for International Cancer Control ypT3a (qualifier value) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| Union for International Cancer Control ypT3a (qualifier value) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| ypT3b (UICC) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| ypT3b (UICC) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| Union for International Cancer Control ypT3c (qualifier value) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| Union for International Cancer Control ypT3c (qualifier value) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| ypT3d (UICC) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| ypT3d (UICC) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| Union for International Cancer Control ypT4 (qualifier value) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| Union for International Cancer Control ypT4 (qualifier value) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| Union for International Cancer Control ypT4a (qualifier value) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| Union for International Cancer Control ypT4a (qualifier value) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| ypT4b (UICC) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| ypT4b (UICC) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| Union for International Cancer Control ypT4c (qualifier value) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| Union for International Cancer Control ypT4c (qualifier value) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| ypT4d (UICC) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| ypT4d (UICC) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| Union for International Cancer Control ypT4e (qualifier value) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| Union for International Cancer Control ypT4e (qualifier value) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| Union for International Cancer Control ypTX (qualifier value) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| Union for International Cancer Control ypTX (qualifier value) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| Union for International Cancer Control ypTa (qualifier value) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| Union for International Cancer Control ypTa (qualifier value) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| ypTis (UICC) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| ypTis (UICC) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| ypTis(DCIS) (UICC) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| ypTis(DCIS) (UICC) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| ypTis(LAMN) (UICC) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| ypTis(LAMN) (UICC) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| Union for International Cancer Control ypTis(LCIS) (qualifier value) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| Union for International Cancer Control ypTis(LCIS) (qualifier value) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| Union for International Cancer Control ypTis(Paget) (qualifier value) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| Union for International Cancer Control ypTis(Paget) (qualifier value) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Union for International Cancer Control: https://www.uicc.org/who-we-are/about-uicc/uicc-and-tnm |
| A rare multiple congenital anomalies syndrome characterised by upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare multiple congenital anomalies syndrome characterised by upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| UMOD-related autosomal dominant tubulointerstitial kidney disease |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| UMOD-related autosomal dominant tubulointerstitial kidney disease |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterised by uveal coloboma (typically bilateral) variably associated with cleft lip, palate and/or uvula, hearing impairment, and intellectual disability. The spectrum of eye involvement is also variable and includes iris coloboma extending to the choroid, disc, and/or macula, microphthalmia, cataract, and extraocular movement impairment. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterised by uveal coloboma (typically bilateral) variably associated with cleft lip, palate and/or uvula, hearing impairment, and intellectual disability. The spectrum of eye involvement is also variable and includes iris coloboma extending to the choroid, disc, and/or macula, microphthalmia, cataract, and extraocular movement impairment. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| VPS11-related autosomal recessive hypomyelinating leucodystrophy |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| VPS11-related autosomal recessive hypomyelinating leucodystrophy |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (disorder) |
|
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Van den Bosch syndrome (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Van den Bosch syndrome (disorder) |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Post-infectious vasculitis |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Post-infectious vasculitis |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Ventilator-induced diaphragmatic dysfunction |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Ventilator-induced diaphragmatic dysfunction |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981. |
en |
Attributed to a particular organisation or group that contributes content to SNOMED CT. |
Inserm Orphanet |
FHIR
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